A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547220



Internal ID16334629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104693155..104744132hg38UCSC Ensembl
Innerchr1:105235777..105286754hg19UCSC Ensembl
Innerchr1:105037300..105088277hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3850978
hg1950978
hg1850978
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173082
SamplesHGDP01416
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547220
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