A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519074



Internal ID15099681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:116921093..116923282hg38UCSC Ensembl
Innerchr1:117463715..117465904hg19UCSC Ensembl
Innerchr1:117265238..117267427hg18UCSC Ensembl
Innerchr1:117175757..117177946hg17UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg382190
hg192190
hg182190
hg172190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696546
Samples
Known GenesPTGFRN
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519074
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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