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dbVar

Database of genomic structural variation

nsv7146695

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:75

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: 385 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):241,888,437-241,888,511

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7146695	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	241,888,437	241,888,511
nsv7146695	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187527.1	Chr2\|NT_18 7527.1	100,535	100,609
nsv7146695	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000002.11	Chr2	242,830,588	242,830,662

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18840887	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18840887	Remapped	Perfect	NT_187527.1:g.1005 35_100609del	GRCh38.p12	Second Pass	NT_187527.1	Chr2\|NT_18 7527.1	100,535	100,609
nssv18840887	Remapped	Perfect	NC_000002.12:g.241 888437_241888511de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	241,888,437	241,888,511
nssv18840887	Submitted genomic		NC_000002.11:g.242 830588_242830662de l	GRCh37.p13		NC_000002.11	Chr2	242,830,588	242,830,662

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)
nssv18840887	1	4	4

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