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dbVar

Database of genomic structural variation

nsv4729889

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:251,158

Description:GRCh37/hg19 22q13.2(chr22:42158393-42409550)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: 631 SVs from 63 studies. See in: genome view

Remapped(Score: Perfect):41,762,389-42,013,546

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4729889	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	41,762,389	42,013,546
nsv4729889	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	42,158,393	42,409,550

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16255038	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001258784.1, VCV000979608.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16255038	Remapped	Perfect	NC_000022.11:g.(?_ 41762389)_(4201354 6_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	41,762,389	42,013,546
nssv16255038	Submitted genomic		NC_000022.10:g.(?_ 42158393)_(4240955 0_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	42,158,393	42,409,550

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
nssv16255038	GRCh37: NC_000022.10:g.(?_42158393)_(42409550_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV001258784.1, VCV000979608.1	3

No genotype data were submitted for this variant

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