A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2197



Internal ID15541480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:54391689..54436933hg38UCSC Ensembl
Outerchr18:51918059..51963303hg19UCSC Ensembl
Outerchr18:50172057..50217301hg18UCSC Ensembl
Outerchr18:50172057..50217301hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3845245
hg1945245
hg1845245
hg1745245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2313
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)nssv2197
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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