A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11178n54



Internal ID20144602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:8140025..8485077hg38UCSC Ensembl
chr7:8179655..8524707hg19UCSC Ensembl
chr7:8146180..8491232hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38345053
hg19345053
hg18345053
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606050, nsv606051
Samples1780862599_A
Known GenesICA1, NXPH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11178n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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