A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577049



Internal ID16017772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58470593..58494881hg38UCSC Ensembl
Innerchr18:56137825..56162113hg19UCSC Ensembl
Innerchr18:54288805..54313093hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3824289
hg1924289
hg1824289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149817
SamplesNINDS_198
Known GenesALPK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577049
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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