A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185386



Internal ID21324193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166889878..166889878hg38UCSC Ensembl
chr2:167746388..167746388hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383223
hg193223
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3946272
Supporting Variants
SamplesHG002
Known GenesXIRP2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185386
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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