A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124



Internal ID15545687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:92590715..92637029hg38UCSC Ensembl
Outerchr13:93242968..93289282hg19UCSC Ensembl
Outerchr13:92040969..92087283hg18UCSC Ensembl
Outerchr13:92040969..92087283hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3846315
hg1946315
hg1846315
hg1746315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6572
SamplesNA12156
Known GenesGPC5
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)nsv1124
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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