A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546327



Internal ID15987050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59583022..59583741hg38UCSC Ensembl
Innerchr1:60048694..60049413hg19UCSC Ensembl
Innerchr1:59821282..59822001hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38720
hg19720
hg18720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv285n54
Supporting Variantsnssv715293, nssv715295, nssv715294, nssv715296
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546327
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer