A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545263



Internal ID15985986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6421856..6508327hg38UCSC Ensembl
Innerchr1:6481916..6568387hg19UCSC Ensembl
Innerchr1:6404503..6490974hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3886472
hg1986472
hg1886472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80n54
Supporting Variantsnssv1173654
SamplesHGDP00814
Known GenesESPN, MIR4252, PLEKHG5, TNFRSF25
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545263
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