A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005638



Internal ID18748169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45189455..45747716hg38UCSC Ensembl
Innerchr2:45416594..45974855hg19UCSC Ensembl
Innerchr2:45270098..45828359hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38558262
hg19558262
hg18558262
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3804n100
Supporting Variantsnssv3581619
Samples
Known GenesLINC01121, PRKCE, SRBD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005638
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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