A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118425



Internal ID18906825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:1635638..1647500hg38UCSC Ensembl
Outerchr1:1571000..1583600hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3811863
hg1912601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958931
SamplesKWS1
Known GenesCDK11B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118425
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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