A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549273



Internal ID15989996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227808265..227863533hg38UCSC Ensembl
Innerchr1:227995966..228051234hg19UCSC Ensembl
Innerchr1:226062589..226117857hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3855269
hg1955269
hg1855269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv737371
Samples
Known GenesPRSS38
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549273
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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