A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133429



Internal ID18915648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:62715267..62716067hg38UCSC Ensembl
Outerchr18:60382500..60383300hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994581, nssv3989868
SamplesKWS2, KWS1
Known GenesPHLPP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133429
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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