A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516243



Internal ID15443536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:68316162..68319317hg38UCSC Ensembl
Innerchr2:68543294..68546449hg19UCSC Ensembl
Innerchr2:68396798..68399953hg18UCSC Ensembl
Innerchr2:68454945..68458100hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg383156
hg193156
hg183156
hg173156
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv221n21
Supporting Variantsnssv672628, nssv656785, nssv692972, nssv677735, nssv667290, nssv671058, nssv674684, nssv656893, nssv674167, nssv663003, nssv680712, nssv657845, nssv687407, nssv659431, nssv676868, nssv688663, nssv667005, nssv655004
Samples
Known GenesCNRIP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516243
Frequency
Sample Size2026
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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