A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1107463



Internal ID15613963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19368824..19427378hg38UCSC Ensembl
Innerchr8:19226335..19284889hg19UCSC Ensembl
Innerchr8:19270615..19329169hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3858555
hg1958555
hg1858555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610751
Supporting Variants
Samples
Known GenesCSGALNACT1, SH2D4A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1107463
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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