A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15178252



Internal ID21317048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2884197..2884272hg38UCSC Ensembl
chr2:2887969..2888044hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3948727
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15178252
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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