A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558941



Internal ID16346350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52692676..52696284hg38UCSC Ensembl
Innerchr12:53086460..53090068hg19UCSC Ensembl
Innerchr12:51372727..51376335hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg383609
hg193609
hg183609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2637n54
Supporting Variantsnssv796052
Samples
Known GenesKRT77
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558941
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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