A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547240



Internal ID16334649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105282939..105407694hg38UCSC Ensembl
Innerchr1:105825561..105950316hg19UCSC Ensembl
Innerchr1:105627084..105751839hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38124756
hg19124756
hg18124756
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv450n54
Supporting Variantsnssv1173087, nssv1173088
SamplesNINDS_125, NINDS_117
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547240
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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