A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5092



Internal ID15549867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:158435739..158472039hg38UCSC Ensembl
Outerchr5:157862747..157899047hg19UCSC Ensembl
Outerchr5:157795325..157831625hg18UCSC Ensembl
Outerchr5:157795325..157831625hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg385972
hg195972
hg185972
hg175972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8177, nssv3397
SamplesNA12156, NA12878
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)nsv5092
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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