A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519743



Internal ID15100350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51961905..52014152hg38UCSC Ensembl
Innerchr10:53721665..53773912hg19UCSC Ensembl
Innerchr10:53391671..53443918hg18UCSC Ensembl
Innerchr10:53391671..53443918hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3852248
hg1952248
hg1852248
hg1752248
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697024
Samples
Known GenesPRKG1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519743
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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