A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138912



Internal ID18929068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1312081..1312132hg38UCSC Ensembl
Outerchr20:1292725..1292776hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985998, nssv3973208
SamplesKWS2, KWS1
Known GenesFKBP1A-SDCBP2, SDCBP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138912
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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