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dbVar

Database of genomic structural variation

nsv7046115

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:7,633,622

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: 19479 SVs from 125 studies. See in: genome view

Submitted genomic128,204,685-135,838,306

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7046115	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	128,204,685	135,838,306
nsv7046115	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	127,844,738	135,523,054

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18778998	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
nssv18778998	Submitted genomic		NC_000007.14:g.128 204685_135838306in v	GRCh38 (hg38)		NC_000007.14	Chr7	128,204,685	135,838,306
nssv18778998	Remapped	Good	NC_000007.13:g.127 844738_135523054in v	GRCh37.p13	First Pass	NC_000007.13	Chr7	127,844,738	135,523,054

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)
nssv18778998	7.1e-05	20	274604

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