A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4333



Internal ID15539060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:74633579..74667562hg38UCSC Ensembl
Outerchr18:72345535..72379518hg19UCSC Ensembl
Outerchr18:70474523..70508506hg18UCSC Ensembl
Outerchr18:70474523..70508506hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg385762
hg195762
hg185762
hg175762
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2357
Supporting Variants
SamplesNA12878
Known GenesZNF407
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)nssv4333
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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