A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611750



Internal ID16052473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:94506977..94562406hg38UCSC Ensembl
Innerchr8:95519205..95574634hg19UCSC Ensembl
Innerchr8:95588381..95643810hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3855430
hg1955430
hg1855430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1117843
Samples
Known GenesKIAA1429
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611750
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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