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dbVar

Database of genomic structural variation

nsv5310934

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:279,898

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: 999 SVs from 76 studies. See in: genome view

Submitted genomic80,791,011-81,070,927

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5310934	Submitted genomic		GRCh38.p13	Primary Assembly		NC_000007.14	Chr7	80,791,021 (-10, +9)	81,070,918 (-10, +9)
nsv5310934	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	80,420,337 (-10, +9)	80,700,234 (-10, +9)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16749254	duplication	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16749254	Submitted genomic		NC_000007.14:g.(80 791011_80791030)_( 81070908_81070927) dup	GRCh38.p13		NC_000007.14	Chr7	80,791,021 (-10, +9)	81,070,918 (-10, +9)
nssv16749254	Remapped	Perfect	NC_000007.13:g.(80 420327_80420346)_( 80700224_80700243) dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	80,420,337 (-10, +9)	80,700,234 (-10, +9)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)
nssv16749254	<0.001

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