A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002120



Internal ID19189177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26465906..26465978hg38UCSC Ensembl
Outerchr18:24045870..24045942hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151195
Supporting Variants
SamplesKWB1
Known GenesKCTD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002120
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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