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dbVar

Database of genomic structural variation

nsv3892428

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:18,448

Description:GRCh37/hg19 7p14.1(chr7:42226378-42244825)x3 AND See cases

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: 94 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):42,186,779-42,205,226

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3892428	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	42,186,779	42,205,226
nsv3892428	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	42,226,378	42,244,825

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15140543	copy number gain	Multiple	Multiple	See cases	Benign/Likely benign	ClinVar	RCV000446363.3, VCV000394643.3	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15140543	Remapped	Perfect	NC_000007.14:g.(?_ 42186779)_(4220522 6_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	42,186,779	42,205,226
nssv15140543	Submitted genomic		NC_000007.13:g.(?_ 42226378)_(4224482 5_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	42,226,378	42,244,825

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
nssv15140543	GRCh37: NC_000007.13:g.(?_42226378)_(42244825_?)dup	copy number gain	not provided	See cases	Benign/Likely benign	ClinVar	RCV000446363.3, VCV000394643.3	3

No genotype data were submitted for this variant

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