A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148157



Internal ID19195986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:31344696..31344840hg38UCSC Ensembl
Outerchr14:31813902..31814046hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001665
SamplesKWB1
Known GenesHEATR5A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148157
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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