A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2357



Internal ID15546920
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 StatusM
Merged Variants
Supporting Variantsnssv4333
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)nsv2357
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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