A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120415



Internal ID18924428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:87679772..87679863hg38UCSC Ensembl
Outerchr13:88332027..88332118hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983073
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120415
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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