A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2057



Internal ID15541340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112279985..112285122hg38UCSC Ensembl
Outerchr13:112934299..112939436hg19UCSC Ensembl
Outerchr13:111982300..111987437hg18UCSC Ensembl
Outerchr13:111982300..111987437hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg389236
hg199236
hg189236
hg179236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1190
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)nssv2057
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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