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dbVar

Database of genomic structural variation

nsv7047253

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:98,880

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: 326 SVs from 46 studies. See in: genome view

Submitted genomic123,588,758-123,687,637

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7047253	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	123,588,758	123,687,637
nsv7047253	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	123,228,812	123,327,691

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18778920	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
nssv18778920	Submitted genomic		NC_000007.14:g.123 588758_123687637in v	GRCh38 (hg38)		NC_000007.14	Chr7	123,588,758	123,687,637
nssv18778920	Remapped	Perfect	NC_000007.13:g.123 228812_123327691in v	GRCh37.p13	First Pass	NC_000007.13	Chr7	123,228,812	123,327,691

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)
nssv18778920	4e-06	1	276268

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