A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130333



Internal ID19248404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:104230741..104231469hg38UCSC Ensembl
Outerchr13:104883091..104883819hg19UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg38729
hg19729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1029n106
Supporting Variantsnssv3966258
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130333
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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