A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3962401



Internal ID19215554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:52497351..52497411hg38UCSC Ensembl
Outerchr18:50023721..50023781hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1111157
Supporting Variants
SamplesKWS1
Known GenesDCC
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3962401
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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