A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525731



Internal ID15106338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:184843031..185068972hg38UCSC Ensembl
Innerchr1:184812165..185038104hg19UCSC Ensembl
Innerchr1:183078788..183304727hg18UCSC Ensembl
Innerchr1:181543822..181769761hg17UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38225942
hg19225940
hg18225940
hg17225940
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701895
Samples
Known GenesFAM129A, RNF2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525731
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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