A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147021



Internal ID19197501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29380592..29380947hg38UCSC Ensembl
Outerchr13:29954729..29955084hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998384
SamplesKWB1
Known GenesMTUS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147021
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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