A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001646



Internal ID18839991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113829296..113829393hg38UCSC Ensembl
Outerchr13:114532269..114532366hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148131
Supporting Variants
SamplesKWB1
Known GenesGAS6, GAS6-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001646
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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