A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4876



Internal ID15549629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:74048573..74081120hg38UCSC Ensembl
Outerchr5:73344398..73376945hg19UCSC Ensembl
Outerchr5:73380154..73412701hg18UCSC Ensembl
Outerchr5:73380154..73412701hg17UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg386887
hg196887
hg186887
hg176887
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6005
SamplesNA12156
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)nsv4876
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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