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dbVar

Database of genomic structural variation

nsv7145022

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:72

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: 212 SVs from 42 studies. See in: genome view

Remapped(Score: Perfect):1,208,249-1,208,320

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7145022	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	1,208,249	1,208,320
nsv7145022	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187526.1	Chr2\|NT_18 7526.1	3,314	3,385
nsv7145022	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000002.11	Chr2	1,203,935	1,204,006

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18838098	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18838098	Remapped	Perfect	NT_187526.1:g.3314 _3385del	GRCh38.p12	Second Pass	NT_187526.1	Chr2\|NT_18 7526.1	3,314	3,385
nssv18838098	Remapped	Perfect	NC_000002.12:g.120 8249_1208320del	GRCh38.p12	First Pass	NC_000002.12	Chr2	1,208,249	1,208,320
nssv18838098	Submitted genomic		NC_000002.11:g.120 3935_1204006del	GRCh37.p13		NC_000002.11	Chr2	1,203,935	1,204,006

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)
nssv18838098	0.5	2	4

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