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dbVar

Database of genomic structural variation

nsv7093376

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:6,159,359

Description:GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1 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: 14734 SVs from 111 studies. See in: genome view

Remapped(Score: Perfect):157,359,005-163,518,363

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093376	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	157,359,005	163,518,363
nsv7093376	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	156,786,013	162,945,369

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18786382	copy number loss	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV002512289.3, VCV001879644.4	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18786382	Remapped	Perfect	NC_000005.10:g.(?_ 157359005)_(163518 363_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	157,359,005	163,518,363
nssv18786382	Submitted genomic		NC_000005.9:g.(?_1 56786013)_(1629453 69_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	156,786,013	162,945,369

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
nssv18786382	GRCh37: NC_000005.9:g.(?_156786013)_(162945369_?)del	copy number loss	germline	not provided	Likely pathogenic	ClinVar	RCV002512289.3, VCV001879644.4	1

No genotype data were submitted for this variant

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