A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134710



Internal ID18913781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:36743107..36750086hg38UCSC Ensembl
Outerchr18:34323070..34330049hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg386980
hg196980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3954998, nssv3991204
SamplesKWS1, KWS2
Known GenesFHOD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134710
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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