A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127312



Internal ID19278630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:21161875..21167987hg38UCSC Ensembl
Outerchr13:21736014..21742126hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg386113
hg196113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985723
SamplesKWS1
Known GenesSKA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127312
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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