A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134397



Internal ID18902967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:91044342..91044392hg38UCSC Ensembl
Outerchr14:91510686..91510736hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1122n106
Supporting Variantsnssv3971896
SamplesKWS2
Known GenesRPS6KA5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134397
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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