A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5714



Internal ID15197021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79379557..79413441hg38UCSC Ensembl
Outerchr18:77139557..77173441hg19UCSC Ensembl
Outerchr18:75240545..75274429hg18UCSC Ensembl
Outerchr18:75240545..75274429hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg385393
hg195393
hg185393
hg175393
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2380
Supporting Variants
SamplesNA19129
Known GenesNFATC1
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)nssv5714
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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