A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977053



Internal ID18882037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:1640439..1647500hg38UCSC Ensembl
Outerchr1:1575800..1584500hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg387062
hg198701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139466
Supporting Variants
SamplesKWS2
Known GenesCDK11B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977053
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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