A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv799958



Internal ID15747228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:85150651..85340291hg38UCSC Ensembl
Innerchr12:85544429..85734069hg19UCSC Ensembl
Innerchr12:84068560..84258200hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38189641
hg19189641
hg18189641
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559662
Supporting Variants
Samples
Known GenesALX1, LRRIQ1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv799958
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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