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dbVar

Database of genomic structural variation

nsv917923

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:82,558

Publication(s):Wapner et al. 2012

Links to Other Resources

Overlapping Genes

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: 213 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):189,684,531-189,767,088

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv917923	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	189,684,531	189,767,088
nsv917923	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	189,402,320	189,484,877
nsv917923	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000003.10	Chr3	190,885,014	190,967,571

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number	Other Calls in this Sample and Study
nssv1607331	copy number loss	ISCA_ID_pn_713	Oligo aCGH	Probe signal intensity	Developmental delay AND/OR other significant developmental or morphological phenotypes	Uncertain significance	Submitter	1	nssv1606468

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1607331	Remapped	Perfect	NC_000003.12:g.(?_ 189684531)_(189767 088_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	189,684,531	189,767,088
nssv1607331	Remapped	Perfect	NC_000003.11:g.(?_ 189402320)_(189484 877_?)del	GRCh37.p13	First Pass	NC_000003.11	Chr3	189,402,320	189,484,877
nssv1607331	Submitted genomic		NC_000003.10:g.(?_ 190885014)_(190967 571_?)del	NCBI36 (hg18)		NC_000003.10	Chr3	190,885,014	190,967,571

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	Other Calls in this Sample and Study
nssv1607331	ISCA_ID_pn_713	NCBI36: NC_000003.10:g.(?_190885014)_(190967571_?)del	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes	Uncertain significance	Submitter	Male	11 weeks gestation	1	nssv1606468

No genotype data were submitted for this variant

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