A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546063



Internal ID15986786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39719061..39841226hg38UCSC Ensembl
Innerchr1:40184733..40306898hg19UCSC Ensembl
Innerchr1:39957320..40079485hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38122166
hg19122166
hg18122166
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712567, nssv1173817, nssv1173816
Samples1780854592_A, 1780862460_A
Known GenesBMP8B, OXCT2, PPIE, TRIT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546063
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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