A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610758



Internal ID16051481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19679573..19697887hg38UCSC Ensembl
Innerchr8:19537084..19555398hg19UCSC Ensembl
Innerchr8:19581364..19599678hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3818315
hg1918315
hg1818315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12053n54
Supporting Variantsnssv1156356, nssv1156357, nssv1156355, nssv1156359, nssv1156358
SamplesHGDP00475, HGDP00455, HGDP01090, HGDP01091, HGDP01086
Known GenesCSGALNACT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610758
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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