A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989394



Internal ID18899975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113839214..113839435hg38UCSC Ensembl
Outerchr13:114542187..114542408hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1135806
Supporting Variants
SamplesKWS2
Known GenesGAS6, GAS6-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989394
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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