A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142162



Internal ID18915943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113829367..113829459hg38UCSC Ensembl
Outerchr13:114532340..114532432hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993668
SamplesKWS2
Known GenesGAS6, GAS6-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142162
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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