A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604121



Internal ID16391530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:88132435..88151979hg38UCSC Ensembl
Innerchr6:88842154..88861698hg19UCSC Ensembl
Innerchr6:88898873..88918417hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3819545
hg1919545
hg1819545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1067646, nssv1154847, nssv1067645, nssv1067644, nssv1154846
SamplesHGDP00033, HGDP00726
Known GenesCNR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604121
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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