A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522157



Internal ID15102764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36032866..36045407hg38UCSC Ensembl
Innerchr18:33612829..33625370hg19UCSC Ensembl
Innerchr18:31866827..31879368hg18UCSC Ensembl
Innerchr18:31866827..31879368hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3812542
hg1912542
hg1812542
hg1712542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694931
Samples
Known GenesRPRD1A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522157
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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