A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998482



Internal ID19158018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2438059..2527360hg38UCSC Ensembl
Innerchr1:2369498..2458799hg19UCSC Ensembl
Innerchr1:2359358..2448659hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3889302
hg1989302
hg1889302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3479094
Samples
Known GenesPANK4, PLCH2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998482
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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