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dbVar

Database of genomic structural variation

nsv7146216

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:52

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: 393 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):90,298,264-90,298,315

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7146216	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	90,298,264	90,298,315
nsv7146216	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187524.1	Chr2\|NT_18 7524.1	104,208	104,259
nsv7146216	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000002.11	Chr2	90,475,722	90,475,773

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18838587	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18838587	Remapped	Perfect	NT_187524.1:g.1042 08_104259del	GRCh38.p12	Second Pass	NT_187524.1	Chr2\|NT_18 7524.1	104,208	104,259
nssv18838587	Remapped	Perfect	NC_000002.12:g.902 98264_90298315del	GRCh38.p12	First Pass	NC_000002.12	Chr2	90,298,264	90,298,315
nssv18838587	Submitted genomic		NC_000002.11:g.904 75722_90475773del	GRCh37.p13		NC_000002.11	Chr2	90,475,722	90,475,773

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)
nssv18838587	1	2	2

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