A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119932



Internal ID19278290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12727776..12727843hg38UCSC Ensembl
Outerchr12:12880710..12880777hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982927
SamplesKWS1
Known GenesAPOLD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119932
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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