A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1081



Internal ID15545644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:71848127..71907550hg38UCSC Ensembl
Outerchr13:72422259..72481688hg19UCSC Ensembl
Outerchr13:71320260..71379689hg18UCSC Ensembl
Outerchr13:71320260..71379689hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3859424
hg1959430
hg1859430
hg1759430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4076, nssv9138
SamplesNA12156, NA12878
Known GenesDACH1
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)nsv1081
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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