A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565747



Internal ID16006470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99603083..99606662hg38UCSC Ensembl
Innerchr14:100069420..100072999hg19UCSC Ensembl
Innerchr14:99139173..99142752hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg383580
hg193580
hg183580
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv833020, nssv833022, nssv833021
Samples
Known GenesCCDC85C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565747
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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