A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546590



Internal ID16333999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76678496..76711504hg38UCSC Ensembl
Innerchr1:77144181..77177189hg19UCSC Ensembl
Innerchr1:76916769..76949777hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3833009
hg1933009
hg1833009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173030
SamplesNINDS_130
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546590
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