A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020



Internal ID15545583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:44278687..44311690hg38UCSC Ensembl
Outerchr13:44852823..44885826hg19UCSC Ensembl
Outerchr13:43750823..43783826hg18UCSC Ensembl
Outerchr13:43750823..43783826hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg387026
hg197026
hg187026
hg177026
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2032
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)nsv1020
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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