A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051554



Internal ID19140773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77537853..77656637hg38UCSC Ensembl
Innerchr14:78004196..78122980hg19UCSC Ensembl
Innerchr14:77073949..77192733hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38118785
hg19118785
hg18118785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531210
Samples
Known GenesSPTLC2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051554
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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