Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv917875

Organism: Homo sapiens

Study:nstd75 (ClinGen Prenatal)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:6
Validation:Not tested
Clinical Assertions: Yes
Region Size:93,468

Publication(s):Wapner et al. 2012

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 424 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):8,633,452-8,726,919

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv917875	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	8,633,452	8,726,919
nsv917875	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	8,601,493	8,694,960
nsv917875	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000023.9	ChrX	8,561,493	8,654,960

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1605974	copy number gain	ISCA_ID_pn_1660	Oligo aCGH	Probe signal intensity	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	Submitter	3
nssv1606498	copy number gain	ISCA_ID_pn_2120	Oligo aCGH	Probe signal intensity	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	Submitter	2
nssv1606748	copy number gain	ISCA_ID_pn_2343	Oligo aCGH	Probe signal intensity	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	Submitter	2
nssv1606865	copy number gain	ISCA_ID_pn_297	Oligo aCGH	Probe signal intensity	Bilateral talipes equinovarus	Benign	Submitter	2
nssv1607393	copy number gain	ISCA_ID_pn_769	Oligo aCGH	Probe signal intensity	Increased nuchal translucency	Benign	Submitter	3
nssv1607426	copy number gain	ISCA_ID_pn_798	Oligo aCGH	Probe signal intensity	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	Submitter	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1605974	Remapped	Perfect	NC_000023.11:g.(?_ 8633452)_(8726919_ ?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	8,633,452	8,726,919
nssv1606498	Remapped	Perfect	NC_000023.11:g.(?_ 8633452)_(8726919_ ?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	8,633,452	8,726,919
nssv1606748	Remapped	Perfect	NC_000023.11:g.(?_ 8633452)_(8726919_ ?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	8,633,452	8,726,919
nssv1606865	Remapped	Perfect	NC_000023.11:g.(?_ 8633452)_(8726919_ ?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	8,633,452	8,726,919
nssv1607393	Remapped	Perfect	NC_000023.11:g.(?_ 8633452)_(8726919_ ?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	8,633,452	8,726,919
nssv1607426	Remapped	Perfect	NC_000023.11:g.(?_ 8633452)_(8726919_ ?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	8,633,452	8,726,919
nssv1605974	Remapped	Perfect	NC_000023.10:g.(?_ 8601493)_(8694960_ ?)dup	GRCh37.p13	First Pass	NC_000023.10	ChrX	8,601,493	8,694,960
nssv1606498	Remapped	Perfect	NC_000023.10:g.(?_ 8601493)_(8694960_ ?)dup	GRCh37.p13	First Pass	NC_000023.10	ChrX	8,601,493	8,694,960
nssv1606748	Remapped	Perfect	NC_000023.10:g.(?_ 8601493)_(8694960_ ?)dup	GRCh37.p13	First Pass	NC_000023.10	ChrX	8,601,493	8,694,960
nssv1606865	Remapped	Perfect	NC_000023.10:g.(?_ 8601493)_(8694960_ ?)dup	GRCh37.p13	First Pass	NC_000023.10	ChrX	8,601,493	8,694,960
nssv1607393	Remapped	Perfect	NC_000023.10:g.(?_ 8601493)_(8694960_ ?)dup	GRCh37.p13	First Pass	NC_000023.10	ChrX	8,601,493	8,694,960
nssv1607426	Remapped	Perfect	NC_000023.10:g.(?_ 8601493)_(8694960_ ?)dup	GRCh37.p13	First Pass	NC_000023.10	ChrX	8,601,493	8,694,960
nssv1605974	Submitted genomic		NC_000023.9:g.(?_8 561493)_(8654960_? )dup	NCBI36 (hg18)		NC_000023.9	ChrX	8,561,493	8,654,960
nssv1606498	Submitted genomic		NC_000023.9:g.(?_8 561493)_(8654960_? )dup	NCBI36 (hg18)		NC_000023.9	ChrX	8,561,493	8,654,960
nssv1606748	Submitted genomic		NC_000023.9:g.(?_8 561493)_(8654960_? )dup	NCBI36 (hg18)		NC_000023.9	ChrX	8,561,493	8,654,960
nssv1606865	Submitted genomic		NC_000023.9:g.(?_8 561493)_(8654960_? )dup	NCBI36 (hg18)		NC_000023.9	ChrX	8,561,493	8,654,960
nssv1607393	Submitted genomic		NC_000023.9:g.(?_8 561493)_(8654960_? )dup	NCBI36 (hg18)		NC_000023.9	ChrX	8,561,493	8,654,960
nssv1607426	Submitted genomic		NC_000023.9:g.(?_8 561493)_(8654960_? )dup	NCBI36 (hg18)		NC_000023.9	ChrX	8,561,493	8,654,960

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Age	Copy number
nssv1605974	ISCA_ID_pn_1660	NCBI36: NC_000023.9:g.(?_8561493)_(8654960_?)dup	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	Submitter	Female	17 weeks gestation	3
nssv1606498	ISCA_ID_pn_2120	NCBI36: NC_000023.9:g.(?_8561493)_(8654960_?)dup	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	Submitter	Male	16 weeks gestation	2
nssv1606748	ISCA_ID_pn_2343	NCBI36: NC_000023.9:g.(?_8561493)_(8654960_?)dup	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	Submitter	Male	17 weeks gestation	2
nssv1606865	ISCA_ID_pn_297	NCBI36: NC_000023.9:g.(?_8561493)_(8654960_?)dup	copy number gain	Bilateral talipes equinovarus	Benign	Submitter	Male	12 weeks gestation	2
nssv1607393	ISCA_ID_pn_769	NCBI36: NC_000023.9:g.(?_8561493)_(8654960_?)dup	copy number gain	Increased nuchal translucency	Benign	Submitter	Female	11 weeks gestation	3
nssv1607426	ISCA_ID_pn_798	NCBI36: NC_000023.9:g.(?_8561493)_(8654960_?)dup	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	Submitter	Female	11 weeks gestation	3

No genotype data were submitted for this variant

You are here: NCBI