A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4936



Internal ID15203009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:103242241..103272016hg38UCSC Ensembl
Outerchr5:102577942..102607717hg19UCSC Ensembl
Outerchr5:102605841..102635616hg18UCSC Ensembl
Outerchr5:102605841..102635616hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg389730
hg199730
hg189730
hg179730
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10465
SamplesNA18956
Known GenesC5orf30
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)nsv4936
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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