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dbVar

Database of genomic structural variation

nsv1398121

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:264,819

Description:GRCh37/hg19 1q21.2(chr1:149783688-150049029)x3 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: 567 SVs from 61 studies. See in: genome view

Remapped(Score: Good):149,812,133-150,076,951

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv1398121	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	149,812,133	150,076,951
nsv1398121	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	149,783,688	150,049,029

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv8639471	copy number gain	Multiple	Multiple	Ductal breast carcinoma	Uncertain significance	ClinVar	RCV000207055.1, VCV000221417.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv8639471	Remapped	Good	NC_000001.11:g.149 812133_150076951du p	GRCh38.p12	First Pass	NC_000001.11	Chr1	149,812,133	150,076,951
nssv8639471	Submitted genomic		NC_000001.10:g.149 783688_150049029du p	GRCh37 (hg19)		NC_000001.10	Chr1	149,783,688	150,049,029

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
nssv8639471	GRCh37: NC_000001.10:g.149783688_150049029dup	copy number gain	somatic	Ductal breast carcinoma	Uncertain significance	ClinVar	RCV000207055.1, VCV000221417.1	3

No genotype data were submitted for this variant

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