A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559396



Internal ID16346805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74192430..74285274hg38UCSC Ensembl
Innerchr12:74586210..74679054hg19UCSC Ensembl
Innerchr12:72872477..72965321hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3892845
hg1992845
hg1892845
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2716n54
Supporting Variantsnssv798835
Samples
Known GenesLOC100507377
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559396
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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