A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4831



Internal ID15549580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:54693690..54727828hg38UCSC Ensembl
Outerchr5:53989518..54023656hg19UCSC Ensembl
Outerchr5:54025275..54059413hg18UCSC Ensembl
Outerchr5:54025275..54059413hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg385878
hg195878
hg185878
hg175878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2696
SamplesNA18555
Known GenesLOC102467080
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)nsv4831
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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