A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112788



Internal ID18917792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:34653996..34656596hg38UCSC Ensembl
Outerchr20:33241800..33244400hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2244n106
Supporting Variantsnssv3967288
SamplesKWS2
Known GenesPIGU
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112788
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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