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dbVar

Database of genomic structural variation

nsv3923717

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38, NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:4,353,901

Description:GRCh38/hg38 5q23.2(chr5:122479268-126833168)x1 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: 11207 SVs from 107 studies. See in: genome view

Submitted genomic122,479,268-126,833,168

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Inner Start	Inner Stop
nsv3923717	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000005.10	Chr5	122,479,268	126,833,168
nsv3923717	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000005.9	Chr5	121,814,963	126,168,860
nsv3923717	Submitted genomic	NCBI36 (hg18)	Primary Assembly	NC_000005.8	Chr5	121,842,862	126,196,759

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15134812	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000136633.5, VCV000147446.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Inner Start	Inner Stop
nssv15134812	Submitted genomic	NC_000005.10:g.(?_ 122479268)_(126833 168_?)del	GRCh38 (hg38)	NC_000005.10	Chr5	122,479,268	126,833,168
nssv15134812	Submitted genomic	NC_000005.9:g.(?_1 21814963)_(1261688 60_?)del	GRCh37 (hg19)	NC_000005.9	Chr5	121,814,963	126,168,860
nssv15134812	Submitted genomic	NC_000005.8:g.(?_1 21842862)_(1261967 59_?)del	NCBI36 (hg18)	NC_000005.8	Chr5	121,842,862	126,196,759

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
nssv15134812	GRCh37: NC_000005.9:g.(?_121814963)_(126168860_?)del, GRCh38: NC_000005.10:g.(?_122479268)_(126833168_?)del, NCBI36: NC_000005.8:g.(?_121842862)_(126196759_?)del	copy number loss	not provided	See cases	Uncertain significance	ClinVar	RCV000136633.5, VCV000147446.2	1

No genotype data were submitted for this variant

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