A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4313



Internal ID15539040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:29444382..29478595hg38UCSC Ensembl
Outerchr18:27024347..27058560hg19UCSC Ensembl
Outerchr18:25278345..25312558hg18UCSC Ensembl
Outerchr18:25278345..25312558hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg385529
hg195529
hg185529
hg175529
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2239
Supporting Variants
SamplesNA12878
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)nssv4313
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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