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

dbVar

Database of genomic structural variation

nsv918177

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:1,066,679

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: 2569 SVs from 89 studies. See in: genome view

Remapped(Score: Perfect):130,611,812-131,678,490

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv918177	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	130,611,812	131,678,490
nsv918177	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	131,532,967	132,599,645
nsv918177	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000004.10	Chr4	131,752,417	132,819,095

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1607642	copy number gain	ISCA_ID_pn_993	Oligo aCGH	Probe signal intensity	Developmental delay AND/OR other significant developmental or morphological phenotypes	Likely benign	Submitter	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1607642	Remapped	Perfect	NC_000004.12:g.(?_ 130611812)_(131678 490_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	130,611,812	131,678,490
nssv1607642	Remapped	Perfect	NC_000004.11:g.(?_ 131532967)_(132599 645_?)dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	131,532,967	132,599,645
nssv1607642	Submitted genomic		NC_000004.10:g.(?_ 131752417)_(132819 095_?)dup	NCBI36 (hg18)		NC_000004.10	Chr4	131,752,417	132,819,095

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
nssv1607642	ISCA_ID_pn_993	NCBI36: NC_000004.10:g.(?_131752417)_(132819095_?)dup	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes	Likely benign	Submitter	Male	11 weeks gestation	3

No genotype data were submitted for this variant

You are here: NCBI