A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001835



Internal ID19091052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91451759..91937600hg38UCSC Ensembl
Innerchr2:91644141..92125626hg19UCSC Ensembl
Innerchr2:91007868..91489353hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38485842
hg19481486
hg18481486
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3993n100
Supporting Variantsnssv3579447
Samples
Known GenesGGT8P, LOC654342
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001835
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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