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dbVar

Database of genomic structural variation

nsv917682

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:266,050

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: 2061 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):634,768-900,817

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv917682	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	634,768	900,817
nsv917682	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	595,503	803,877
nsv917682	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000023.9	ChrX	515,503	781,552

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1605843	copy number gain	ISCA_ID_pn_1543	Oligo aCGH	Probe signal intensity	Developmental delay AND/OR other significant developmental or morphological phenotypes	Uncertain significance	Submitter	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1605843	Remapped	Perfect	NC_000023.11:g.(?_ 634768)_(900817_?) dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	634,768	900,817
nssv1605843	Remapped	Pass	NC_000023.10:g.(?_ 595503)_(803877_?) dup	GRCh37.p13	First Pass	NC_000023.10	ChrX	595,503	803,877
nssv1605843	Submitted genomic		NC_000023.9:g.(?_5 15503)_(781552_?)d up	NCBI36 (hg18)		NC_000023.9	ChrX	515,503	781,552

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
nssv1605843	ISCA_ID_pn_1543	NCBI36: NC_000023.9:g.(?_515503)_(781552_?)dup	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes	Uncertain significance	Submitter	Male	17 weeks gestation	2

No genotype data were submitted for this variant

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