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dbVar

Database of genomic structural variation

nsv4769373

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:1,113,476

Description:GRCh37/hg19 8q24.3(chr8:145033244-146297937)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: 5690 SVs from 108 studies. See in: genome view

Remapped(Score: Pass):143,959,076-145,072,551

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4769373	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	143,959,076	145,072,551
nsv4769373	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	145,033,244	146,297,937

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16297073	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001270667.4, VCV000988937.4	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16297073	Remapped	Pass	NC_000008.11:g.143 959076_145072551du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	143,959,076	145,072,551
nssv16297073	Submitted genomic		NC_000008.10:g.145 033244_146297937du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,033,244	146,297,937

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
nssv16297073	GRCh37: NC_000008.10:g.145033244_146297937dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV001270667.4, VCV000988937.4	3

No genotype data were submitted for this variant

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