A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5120



Internal ID15549898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:168431635..168466125hg38UCSC Ensembl
Outerchr5:167858640..167893130hg19UCSC Ensembl
Outerchr5:167791218..167825708hg18UCSC Ensembl
Outerchr5:167791218..167825708hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg385259
hg195259
hg185259
hg175259
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3403
SamplesNA12878
Known GenesWWC1
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)nsv5120
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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