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dbVar

Database of genomic structural variation

nsv5272049

Organism: Homo sapiens

Study:nstd204 (Chen et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:94,800

Publication(s):Chen et al. 2021

Links to Other Resources

Overlapping Genes

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: 566 SVs from 62 studies. See in: genome view

Submitted genomic52,294,701-52,389,500

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5272049	Submitted genomic		GRCh38.p13	Primary Assembly		NC_000012.12	Chr12	52,294,701	52,389,500
nsv5272049	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	52,688,485	52,783,284

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16802008	copy number variation	Sequencing	Read depth

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16802008	Submitted genomic		GRCh38.p13		NC_000012.12	Chr12	52,294,701	52,389,500
nssv16802008	Remapped	Perfect	GRCh37.p13	First Pass	NC_000012.11	Chr12	52,688,485	52,783,284

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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