A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548252



Internal ID15988975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:177758922..178428784hg38UCSC Ensembl
Innerchr1:177728057..178397919hg19UCSC Ensembl
Innerchr1:175994680..176664542hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38669863
hg19669863
hg18669863
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729115
Samples
Known GenesLOC730102, RASAL2, RASAL2-AS1, SEC16B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548252
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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