A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152149



Internal ID18849377
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 StatusM
Merged Variants
Supporting Variantsnssv3996757
SamplesKWB1
Known GenesCROCCP2, MIR3675, MST1P2, NBPF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152149
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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