A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578443



Internal ID16019166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:4320221..4386355hg38UCSC Ensembl
Innerchr19:4320218..4386352hg19UCSC Ensembl
Innerchr19:4271218..4337352hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3866135
hg1966135
hg1866135
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150025
SamplesNINDS_194
Known GenesFSD1, MPND, SH3GL1, STAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578443
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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