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dbVar

Database of genomic structural variation

nsv7146431

Organism: Homo sapiens

Study:nstd232 (Keane et al. 2023)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh37

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

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: 295 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):1,338,808-1,338,808

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7146431	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	1,338,808	1,338,808
nsv7146431	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187565.1	Chr8\|NT_18 7565.1	58,024	58,024
nsv7146431	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000008.10	Chr8	1,286,974	1,286,974

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18838799	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18838799	Remapped	Perfect	NT_187565.1:g.5802 4_58025ins78	GRCh38.p12	Second Pass	NT_187565.1	Chr8\|NT_18 7565.1	58,024	58,024
nssv18838799	Remapped	Perfect	NC_000008.11:g.133 8808_1338809ins78	GRCh38.p12	First Pass	NC_000008.11	Chr8	1,338,808	1,338,808
nssv18838799	Submitted genomic		NC_000008.10:g.128 6974_1286975ins78	GRCh37.p13		NC_000008.10	Chr8	1,286,974	1,286,974

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)
nssv18838799	0.5	1	2

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