A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997



Internal ID15553018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:34356390..34389171hg38UCSC Ensembl
Outerchr13:34930527..34963308hg19UCSC Ensembl
Outerchr13:33828527..33861308hg18UCSC Ensembl
Outerchr13:33828527..33861308hg17UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg387246
hg197246
hg187246
hg177246
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2028
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)nsv997
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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