A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005527



Internal ID19094744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42026606..42078931hg38UCSC Ensembl
Innerchr2:42253746..42306071hg19UCSC Ensembl
Innerchr2:42107250..42159575hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3852326
hg1952326
hg1852326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581568
Samples
Known GenesPKDCC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005527
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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