A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545283



Internal ID16332692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6962639..6964162hg38UCSC Ensembl
Innerchr1:7022699..7024222hg19UCSC Ensembl
Innerchr1:6945286..6946809hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381524
hg191524
hg181524
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv709433, nssv709428, nssv709432, nssv709427, nssv709430, nssv709429, nssv709431, nssv709426
Samples
Known GenesCAMTA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545283
Frequency
Sample Size17421
Observed Gain4
Observed Loss4
Observed Complex0
Frequencyn/a


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