A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4997



Internal ID15549762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:129239588..129270612hg38UCSC Ensembl
Outerchr5:128575281..128606305hg19UCSC Ensembl
Outerchr5:128603180..128634204hg18UCSC Ensembl
Outerchr5:128603180..128634204hg17UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg388861
hg198861
hg188861
hg178861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11111
SamplesNA15510
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)nsv4997
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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