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dbVar

Database of genomic structural variation

nsv7064476

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,445,441

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: 5924 SVs from 99 studies. See in: genome view

Submitted genomic123,462,060-125,907,500

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7064476	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	123,462,060	125,907,500
nsv7064476	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	123,332,768	125,777,395

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18747639	inversion	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
nssv18747639	Submitted genomic		NC_000011.10:g.123 462060_125907500in v	GRCh38 (hg38)		NC_000011.10	Chr11	123,462,060	125,907,500
nssv18747639	Remapped	Good	NC_000011.9:g.1233 32768_125777395inv	GRCh37.p13	First Pass	NC_000011.9	Chr11	123,332,768	125,777,395

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)	Allele Count (AC)	Allele Number (AN)
nssv18747639	2.6e-05	7	266872

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