A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2714



Internal ID15195175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179675417..179709494hg38UCSC Ensembl
Outerchr5:179102418..179136495hg19UCSC Ensembl
Outerchr5:179035024..179069101hg18UCSC Ensembl
Outerchr5:179035024..179069101hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385921
hg195921
hg185921
hg175921
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5160
Supporting Variants
SamplesNA18555
Known GenesCANX, CBY3
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)nssv2714
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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