A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998



Internal ID15553019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:34640402..34685611hg38UCSC Ensembl
Outerchr13:35214539..35259748hg19UCSC Ensembl
Outerchr13:34112539..34157748hg18UCSC Ensembl
Outerchr13:34112539..34157748hg17UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg3845210
hg1945210
hg1845210
hg1745210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9108
SamplesNA12156
Known GenesLINC00457
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)nsv998
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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