A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2987



Internal ID15541560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78641545..78664414hg38UCSC Ensembl
Outerchr18:76401545..76424414hg19UCSC Ensembl
Outerchr18:74502533..74525402hg18UCSC Ensembl
Outerchr18:74502533..74525402hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg387076
hg197076
hg187076
hg177076
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2373
Supporting Variants
SamplesNA18555
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)nssv2987
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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