A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127394



Internal ID18918509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:91044339..91044397hg38UCSC Ensembl
Outerchr14:91510683..91510741hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1122n106
Supporting Variantsnssv3955082
SamplesKWS1
Known GenesRPS6KA5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127394
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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