A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544905



Internal ID15985628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:929558..934930hg38UCSC Ensembl
Innerchr1:864938..870310hg19UCSC Ensembl
Innerchr1:854801..860173hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg385373
hg195373
hg185373
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10n54
Supporting Variantsnssv707692, nssv707697, nssv707694, nssv707693, nssv707696, nssv707690, nssv707695, nssv707691
Samples
Known GenesSAMD11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544905
Frequency
Sample Size17421
Observed Gain2
Observed Loss6
Observed Complex0
Frequencyn/a


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