A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5031



Internal ID15203114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141177713..141202707hg38UCSC Ensembl
Outerchr5:140557294..140582280hg19UCSC Ensembl
Outerchr5:140537478..140562464hg18UCSC Ensembl
Outerchr5:140537478..140562464hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3819560
hg1919560
hg1819560
hg1719560
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6026, nssv2548
SamplesNA12156, NA18555
Known GenesPCDHB10, PCDHB11, PCDHB16, PCDHB8, PCDHB9
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)nsv5031
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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