A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112



Internal ID15545675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:88712721..88765289hg38UCSC Ensembl
Outerchr13:89364975..89417543hg19UCSC Ensembl
Outerchr13:88162976..88215544hg18UCSC Ensembl
Outerchr13:88162976..88215544hg17UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3852569
hg1952569
hg1852569
hg1752569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9295
SamplesNA18517
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)nsv1112
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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