A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545299



Internal ID16332708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:7126265..7171424hg38UCSC Ensembl
Innerchr1:7186325..7231484hg19UCSC Ensembl
Innerchr1:7108912..7154071hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3845160
hg1945160
hg1845160
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173656
SamplesHGDP00797
Known GenesCAMTA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545299
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