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dbVar

Database of genomic structural variation

nsv1398518

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:30,100

Description:GRCh37/hg19 5q12.3(chr5:64817329-64847428)x7 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: 186 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):65,521,502-65,551,601

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv1398518	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	65,521,502	65,551,601
nsv1398518	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	64,817,329	64,847,428

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv8639872	copy number gain	Multiple	Multiple	Ductal breast carcinoma	Uncertain significance	ClinVar	RCV000207185.1, VCV000221384.1	7

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv8639872	Remapped	Perfect	NC_000005.10:g.655 21502_65551601dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	65,521,502	65,551,601
nssv8639872	Submitted genomic		NC_000005.9:g.6481 7329_64847428dup	GRCh37 (hg19)		NC_000005.9	Chr5	64,817,329	64,847,428

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
nssv8639872	GRCh37: NC_000005.9:g.64817329_64847428dup	copy number gain	somatic	Ductal breast carcinoma	Uncertain significance	ClinVar	RCV000207185.1, VCV000221384.1	7

No genotype data were submitted for this variant

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