A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516501



Internal ID15443794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202500595..202577973hg38UCSC Ensembl
Innerchr1:202469723..202547101hg19UCSC Ensembl
Innerchr1:200736346..200813724hg18UCSC Ensembl
Innerchr1:199201380..199278758hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3877379
hg1977379
hg1877379
hg1777379
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv677317, nssv680690, nssv705448, nssv668714
Samples
Known GenesPPP1R12B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516501
Frequency
Sample Size2026
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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