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dbVar

Database of genomic structural variation

nsv1397959

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:53,908

Description:GRCh37/hg19 4q32.3(chr4:169325195-169379102)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: 216 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):168,404,044-168,457,951

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv1397959	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	168,404,044	168,457,951
nsv1397959	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	169,325,195	169,379,102

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv8639308	copy number gain	Multiple	Multiple	Ductal breast carcinoma	Uncertain significance	ClinVar	RCV000207274.1, VCV000221439.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv8639308	Remapped	Perfect	NC_000004.12:g.168 404044_168457951du p	GRCh38.p12	First Pass	NC_000004.12	Chr4	168,404,044	168,457,951
nssv8639308	Submitted genomic		NC_000004.11:g.169 325195_169379102du p	GRCh37 (hg19)		NC_000004.11	Chr4	169,325,195	169,379,102

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
nssv8639308	GRCh37: NC_000004.11:g.169325195_169379102dup	copy number gain	somatic	Ductal breast carcinoma	Uncertain significance	ClinVar	RCV000207274.1, VCV000221439.1	3

No genotype data were submitted for this variant

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