A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123



Internal ID15545686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:92404807..92439323hg38UCSC Ensembl
Outerchr13:93057060..93091576hg19UCSC Ensembl
Outerchr13:91855061..91889577hg18UCSC Ensembl
Outerchr13:91855061..91889577hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg385490
hg195490
hg185490
hg175490
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2908
SamplesNA18555
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)nsv1123
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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