A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2904



Internal ID15541652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:85162301..85196105hg38UCSC Ensembl
Outerchr13:85736436..85770240hg19UCSC Ensembl
Outerchr13:84634437..84668241hg18UCSC Ensembl
Outerchr13:84634437..84668241hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg386226
hg196226
hg186226
hg176226
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1109
Supporting Variants
SamplesNA18555
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv2904
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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