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

dbVar

Database of genomic structural variation

nsv7096582

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:491,520

Description:
See descriptions for individual calls in download files
Publication(s):Forsythe et al. 2003, Styne et al. 2017

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: 1289 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):168,996,615-169,488,134

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096582	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	168,996,615	169,488,134
nsv7096582	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	169,853,125	170,344,644

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789861	duplication	Multiple	Multiple	Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome	Uncertain significance	ClinVar	RCV003113513.1, VCV002425146.2
nssv18789862	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003113514.2, VCV002425146.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789861	Remapped	Perfect	NC_000002.12:g.(?_ 168996615)_(169488 134_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	168,996,615	169,488,134
nssv18789862	Remapped	Perfect	NC_000002.12:g.(?_ 168996615)_(169488 134_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	168,996,615	169,488,134
nssv18789861	Submitted genomic		NC_000002.11:g.(?_ 169853125)_(170344 644_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	169,853,125	170,344,644
nssv18789862	Submitted genomic		NC_000002.11:g.(?_ 169853125)_(170344 644_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	169,853,125	170,344,644

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789861	GRCh37: NC_000002.11:g.(?_169853125)_(170344644_?)dup	duplication	germline	Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome	Uncertain significance	ClinVar	RCV003113513.1, VCV002425146.2
nssv18789862	GRCh37: NC_000002.11:g.(?_169853125)_(170344644_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003113514.2, VCV002425146.2

No genotype data were submitted for this variant

You are here: NCBI