A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3971178



Internal ID18874166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:21661474..21661546hg38UCSC Ensembl
Outerchr18:19241435..19241507hg19UCSC 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 Variantsnsv1131361
Supporting Variants
SamplesKWS1
Known GenesABHD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3971178
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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