A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136252



Internal ID18924993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37485137..37485637hg38UCSC Ensembl
Outerchr18:35065100..35065600hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1576n106
Supporting Variantsnssv3989866
SamplesKWS2
Known GenesCELF4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136252
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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