A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563998



Internal ID16004721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22414183..22879743hg38UCSC Ensembl
Innerchr14:22883178..23348952hg19UCSC Ensembl
Innerchr14:21953018..22418792hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38465561
hg19465775
hg18465775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv824315
Samples
Known GenesABHD4, DAD1, LRP10, MMP14, MRPL52, OXA1L, SLC7A7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563998
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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