A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122874



Internal ID18923412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113842102..113842159hg38UCSC Ensembl
Outerchr13:114545075..114545132hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971466
SamplesKWS2
Known GenesGAS6, GAS6-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122874
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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