A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545509



Internal ID16332918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12839881..12857981hg38UCSC Ensembl
Innerchr1:12899734..12917836hg19UCSC Ensembl
Innerchr1:12822321..12840423hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3818101
hg1918103
hg1818103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv131n54
Supporting Variantsnssv710155, nssv710154, nssv710153
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545509
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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