A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549182



Internal ID15989905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214993893..215075074hg38UCSC Ensembl
Innerchr1:215167236..215248417hg19UCSC Ensembl
Innerchr1:213233859..213315040hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3881182
hg1981182
hg1881182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv736937
Samples
Known GenesKCNK2, MIR548F3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549182
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