A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564172



Internal ID16351581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:30682243..30684117hg38UCSC Ensembl
Innerchr14:31151449..31153323hg19UCSC Ensembl
Innerchr14:30221200..30223074hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381875
hg191875
hg181875
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv825136, nssv825137
Samples
Known GenesSCFD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564172
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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