A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591428



Internal ID16032151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123608828..124139902hg38UCSC Ensembl
Innerchr3:123327675..123858749hg19UCSC Ensembl
Innerchr3:124810365..125341439hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38531075
hg19531075
hg18531075
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152271
SamplesHGDP00372
Known GenesCCDC14, KALRN, MIR5002, MYLK, MYLK-AS1, ROPN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591428
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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