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dbVar

Database of genomic structural variation

nsv6137806

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:73,040

Description:
GRCh37/hg19 3q29(chr3:196539700-196612739)x1 AND del3q29

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: 488 SVs from 69 studies. See in: genome view

Remapped(Score: Perfect):196,812,829-196,885,868

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6137806	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	196,812,829	196,885,868
nsv6137806	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	196,539,700	196,612,739

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17683480	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV001581094.2, VCV001217224.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17683480	Remapped	Perfect	NC_000003.12:g.(?_ 196812829)_(196885 868_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	196,812,829	196,885,868
nssv17683480	Submitted genomic		NC_000003.11:g.(?_ 196539700)_(196612 739_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	196,539,700	196,612,739

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	Copy number
nssv17683480	GRCh37: NC_000003.11:g.(?_196539700)_(196612739_?)del	copy number loss	maternal	See cases	Uncertain significance	ClinVar	RCV001581094.2, VCV001217224.2	1

No genotype data were submitted for this variant

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