A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129927



Internal ID19259310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:31344655..31344848hg38UCSC Ensembl
Outerchr14:31813861..31814054hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1064n106
Supporting Variantsnssv3965065
SamplesKWS2
Known GenesHEATR5A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129927
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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