A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147757



Internal ID19196766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:37043174..37043247hg38UCSC Ensembl
Outerchr13:37617311..37617384hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996543
SamplesKWB1
Known GenesSUPT20H
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147757
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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