A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1147



Internal ID15544589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:57176690..57253943hg38UCSC Ensembl
Outerchr13:57750824..57828077hg19UCSC Ensembl
Outerchr13:56648825..56726078hg18UCSC Ensembl
Outerchr13:56648825..56726078hg17UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3877254
hg1977254
hg1877254
hg1777254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1058
Supporting Variants
SamplesNA19240
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)nssv1147
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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