A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545946



Internal ID16333355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:30616120..30678605hg38UCSC Ensembl
Innerchr1:31088967..31151452hg19UCSC Ensembl
Innerchr1:30861554..30924039hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3862486
hg1962486
hg1862486
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712140
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545946
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