A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559208



Internal ID16346617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66613290..66644815hg38UCSC Ensembl
Innerchr12:67007070..67038595hg19UCSC Ensembl
Innerchr12:65293337..65324862hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3831526
hg1931526
hg1831526
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176417
Samples1788485588_A
Known GenesGRIP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559208
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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