A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4879



Internal ID15549632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:75102939..75139701hg38UCSC Ensembl
Outerchr5:74398764..74435526hg19UCSC Ensembl
Outerchr5:74434520..74471282hg18UCSC Ensembl
Outerchr5:74434520..74471282hg17UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg385932
hg195932
hg185932
hg175932
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4845, nssv2697, nssv478
SamplesNA18555, NA19240, NA19129
Known GenesANKRD31
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)nsv4879
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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