A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001329



Internal ID18841236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:46464500..46464562hg38UCSC Ensembl
Outerchr13:47038635..47038697hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153411
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001329
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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