A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7391



Internal ID15536473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:45963749..46008613hg38UCSC Ensembl
Outerchr18:43543715..43588579hg19UCSC Ensembl
Outerchr18:41797713..41842577hg18UCSC Ensembl
Outerchr18:41797713..41842577hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3844865
hg1944865
hg1844865
hg1744865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2277
Supporting Variants
SamplesNA12156
Known GenesEPG5, PSTPIP2
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)nssv7391
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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