A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577551



Internal ID16364960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:70284647..70287994hg38UCSC Ensembl
Innerchr18:67951883..67955230hg19UCSC Ensembl
Innerchr18:66102863..66106210hg18UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg383348
hg193348
hg183348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6056n54
Supporting Variantsnssv887098, nssv887103, nssv887105, nssv887101, nssv887099, nssv887097, nssv887100, nssv887104, nssv887102
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577551
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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