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dbVar

Database of genomic structural variation

nsv1398346

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:40,688

Description:GRCh37/hg19 1p31.1(chr1:84610138-84650825)x6 AND Ductal breast carcinoma

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: 183 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):84,144,455-84,185,142

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv1398346	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	84,144,455	84,185,142
nsv1398346	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	84,610,138	84,650,825

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv8639699	copy number gain	Multiple	Multiple	Ductal breast carcinoma	Uncertain significance	ClinVar	RCV000207125.1, VCV000221412.1	6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv8639699	Remapped	Perfect	NC_000001.11:g.841 44455_84185142dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	84,144,455	84,185,142
nssv8639699	Submitted genomic		NC_000001.10:g.846 10138_84650825dup	GRCh37 (hg19)		NC_000001.10	Chr1	84,610,138	84,650,825

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
nssv8639699	GRCh37: NC_000001.10:g.84610138_84650825dup	copy number gain	somatic	Ductal breast carcinoma	Uncertain significance	ClinVar	RCV000207125.1, VCV000221412.1	6

No genotype data were submitted for this variant

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