A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517999



Internal ID15445292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241123225..241277118hg38UCSC Ensembl
Innerchr1:241286525..241440418hg19UCSC Ensembl
Innerchr1:239353148..239507041hg18UCSC Ensembl
Innerchr1:237612566..237766459hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38153894
hg19153894
hg18153894
hg17153894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695410
Samples
Known GenesMIR3123, RGS7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517999
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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