A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545072



Internal ID15985795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2401592..2475448hg38UCSC Ensembl
Innerchr1:2333031..2406887hg19UCSC Ensembl
Innerchr1:2322891..2396747hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3873857
hg1973857
hg1873857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708744
Samples
Known GenesPEX10, RER1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545072
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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