A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5002



Internal ID15203082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132419576..132451455hg38UCSC Ensembl
Outerchr5:131755268..131787147hg19UCSC Ensembl
Outerchr5:131783167..131815046hg18UCSC Ensembl
Outerchr5:131783167..131815046hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg387560
hg197560
hg187560
hg177560
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6020
SamplesNA12156
Known GenesC5orf56
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)nsv5002
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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