A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136175



Internal ID19281730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:109785653..109786653hg38UCSC Ensembl
Outerchr13:110438000..110439000hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989783
SamplesKWS2
Known GenesIRS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136175
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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