A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967217



Internal ID19238036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47247629..47248329hg38UCSC Ensembl
Outerchr18:44774000..44774700hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112726
Supporting Variants
SamplesKWS2
Known GenesSKOR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967217
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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