A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002209



Internal ID19091426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:63933251..64011341hg38UCSC Ensembl
Innerchr2:64160385..64238475hg19UCSC Ensembl
Innerchr2:64013889..64091979hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3878091
hg1978091
hg1878091
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3730855
Samples
Known GenesVPS54
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002209
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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