A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606035



Internal ID16046758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7213144..7402538hg38UCSC Ensembl
Innerchr7:7252775..7442169hg19UCSC Ensembl
Innerchr7:7219300..7408694hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38189395
hg19189395
hg18189395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155149
SamplesHGDP00254
Known GenesC1GALT1, COL28A1, LOC101927354
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606035
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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