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dbVar

Database of genomic structural variation

nsv6637527

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:293,602

Description:GRCh37/hg19 22q13.2(chr22:42765874-43059475)x3 AND not provided

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: 1755 SVs from 93 studies. See in: genome view

Remapped(Score: Perfect):42,369,868-42,663,469

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6637527	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	42,369,868	42,663,469
nsv6637527	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	42,765,874	43,059,475

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18330492	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV002474752.1, VCV001808907.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18330492	Remapped	Perfect	NC_000022.11:g.(?_ 42369868)_(4266346 9_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	42,369,868	42,663,469
nssv18330492	Submitted genomic		NC_000022.10:g.(?_ 42765874)_(4305947 5_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	42,765,874	43,059,475

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
nssv18330492	GRCh37: NC_000022.10:g.(?_42765874)_(43059475_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV002474752.1, VCV001808907.1	3

No genotype data were submitted for this variant

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