A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705448



Internal ID15442100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202507520..202562238hg38UCSC Ensembl
Innerchr1:202476648..202531366hg19UCSC Ensembl
Innerchr1:200743271..200797989hg18UCSC Ensembl
Innerchr1:199208305..199263023hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3854719
hg1954719
hg1854719
hg1754719
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516501
Supporting Variants
Samples
Known GenesPPP1R12B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705448
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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