A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1182



Internal ID15545745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110177344..110222682hg38UCSC Ensembl
Outerchr13:110829691..110875029hg19UCSC Ensembl
Outerchr13:109627692..109673030hg18UCSC Ensembl
Outerchr13:109627692..109673030hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3845339
hg1945339
hg1845339
hg1745339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6577
SamplesNA12156
Known GenesCOL4A1
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)nsv1182
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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