A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136547



Internal ID18917461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:46724835..46724904hg38UCSC Ensembl
Outerchr20:45353474..45353543hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955669, nssv3973722
SamplesKWS1, KWS2
Known GenesSLC2A10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136547
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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