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dbVar

Database of genomic structural variation

nsv5036275

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:mobile element deletion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:6,231

Publication(s):Abel et al. 2020

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: 168 SVs from 53 studies. See in: genome view

Submitted genomic19,764,871-19,771,123

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5036275	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	19,764,893 (-22, +22)	19,771,123
nsv5036275	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	19,765,124 (-22, +22)	19,771,354

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16480000	line1 deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16480000	Submitted genomic		NC_000006.12:g.(19 764871_19764915)_1 9771123del	GRCh38 (hg38)		NC_000006.12	Chr6	19,764,893 (-22, +22)	19,771,123
nssv16480000	Remapped	Perfect	NC_000006.11:g.(19 765102_19765146)_1 9771354del	GRCh37.p13	First Pass	NC_000006.11	Chr6	19,765,124 (-22, +22)	19,771,354

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16480000	0.541	15834	29246

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