A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4782



Internal ID15202840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:33824136..33851985hg38UCSC Ensembl
Outerchr5:33824241..33852090hg19UCSC Ensembl
Outerchr5:33859998..33887847hg18UCSC Ensembl
Outerchr5:33859998..33887847hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg387284
hg197284
hg187284
hg177284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4829
SamplesNA19129
Known GenesADAMTS12
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)nsv4782
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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