A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1108924



Internal ID18939901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104872296..104872493hg38UCSC Ensembl
Outerchr14:105338633..105338830hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3954713
SamplesKWS1
Known GenesCEP170B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1108924
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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