A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138287



Internal ID18931033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:32349274..32349340hg38UCSC Ensembl
Outerchr14:32818480..32818546hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3990836
SamplesKWS2
Known GenesAKAP6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138287
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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