A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577953



Internal ID16018676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79888218..79988975hg38UCSC Ensembl
Innerchr18:77648218..77748975hg19UCSC Ensembl
Innerchr18:75749206..75849963hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38100758
hg19100758
hg18100758
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv890266
Samples
Known GenesHSBP1L1, KCNG2, PQLC1, TXNL4A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577953
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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