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dbVar

Database of genomic structural variation

nsv491521

Organism: Homo sapiens

Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:80,275

Description:1 copy: 6p telomere | 3 copies: 6p telomere
Publication(s):Riggs et al. 2011

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: 1752 SVs from 83 studies. See in: genome view

Remapped(Score: Perfect):259,528-339,802

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv491521	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	259,528	339,802
nsv491521	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	259,528	339,802

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1184580	copy number loss	Curated	Curated	No demonstrable phenotype expected - however variants at this locus may cause disease by other mechanisms	Benign	ClinGen Dosage Sensitivity Map	1
nssv1184581	copy number gain	Curated	Curated	No demonstrable phenotype expected - however variants at this locus may cause disease by other mechanisms	Benign	ClinGen Dosage Sensitivity Map	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1184580	Remapped	Perfect	NC_000006.12:g.(?_ 259528)_(339802_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	259,528	339,802
nssv1184581	Remapped	Perfect	NC_000006.12:g.(?_ 259528)_(339802_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	259,528	339,802
nssv1184580	Submitted genomic		NC_000006.11:g.(?_ 259528)_(339802_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	259,528	339,802
nssv1184581	Submitted genomic		NC_000006.11:g.(?_ 259528)_(339802_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	259,528	339,802

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1184580	GRCh37: NC_000006.11:g.(?_259528)_(339802_?)del	copy number loss	No demonstrable phenotype expected - however variants at this locus may cause disease by other mechanisms	Benign	ClinGen Dosage Sensitivity Map	1
nssv1184581	GRCh37: NC_000006.11:g.(?_259528)_(339802_?)dup	copy number gain	No demonstrable phenotype expected - however variants at this locus may cause disease by other mechanisms	Benign	ClinGen Dosage Sensitivity Map	3

No genotype data were submitted for this variant

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