A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996757



Internal ID18842904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16540704..16667505hg38UCSC Ensembl
Outerchr1:16867199..16994000hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38126802
hg19126802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152149
Supporting Variants
SamplesKWB1
Known GenesCROCCP2, MIR3675, MST1P2, NBPF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996757
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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