A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv672628



Internal ID15409280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:68319242..68319317hg38UCSC Ensembl
Innerchr2:68546374..68546449hg19UCSC Ensembl
Innerchr2:68399878..68399953hg18UCSC Ensembl
Innerchr2:68458025..68458100hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
hg1776
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516243
Supporting Variants
Samples
Known GenesCNRIP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv672628
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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