A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007054



Internal ID19096272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:34466002..34517957hg38UCSC Ensembl
Innerchr2:34691069..34743024hg19UCSC Ensembl
Innerchr2:34544573..34596528hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3851956
hg1951956
hg1851956
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3761n100
Supporting Variantsnssv3575215
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007054
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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