A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130314



Internal ID18925083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8864207..8865271hg38UCSC Ensembl
Outerchr12:9016803..9017867hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381065
hg191065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv760n106
Supporting Variantsnssv3963038, nssv3989008
SamplesKWS2, KWS1
Known GenesA2ML1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130314
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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