A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546783



Internal ID16334192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88799565..88894837hg38UCSC Ensembl
Innerchr1:89265248..89360520hg19UCSC Ensembl
Innerchr1:89037836..89133108hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3895273
hg1995273
hg1895273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv360n54
Supporting Variantsnssv1173057
SamplesHGDP01003
Known GenesGTF2B, PKN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546783
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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