A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959592



Internal ID18856939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49686367..49691867hg38UCSC Ensembl
Outerchr3:49723800..49729300hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385501
hg195501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118699
Supporting Variants
SamplesKWS1
Known GenesMST1, RNF123
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959592
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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