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dbVar

Database of genomic structural variation

nsv4327486

Organism: Homo sapiens

Study:nstd166 (gnomAD Structural Variants)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:34,612

Publication(s):gnomAD_Structural_Variants

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: 79 SVs from 16 studies. See in: genome view

Remapped(Score: Perfect):30,062,695-30,097,306

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4327486	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	30,062,695	30,097,306
nsv4327486	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000002.11	Chr2	30,285,561	30,320,172

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16091144	inversion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16091144	Remapped	Perfect	NC_000002.12:g.300 62695_30097306inv	GRCh38.p12	First Pass	NC_000002.12	Chr2	30,062,695	30,097,306
nssv16091144	Submitted genomic		NC_000002.11:g.302 85561_30320172inv	GRCh37.p13		NC_000002.11	Chr2	30,285,561	30,320,172

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)
nssv16091144	4.6e-005	1	21694

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