A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7386



Internal ID15536478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:43732967..43741936hg38UCSC Ensembl
Outerchr18:41312932..41321901hg19UCSC Ensembl
Outerchr18:39566930..39575899hg18UCSC Ensembl
Outerchr18:39566930..39575899hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg386592
hg196592
hg186592
hg176592
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2270
Supporting Variants
SamplesNA12156
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)nssv7386
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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