A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518144



Internal ID15098751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70629103..70634080hg38UCSC Ensembl
Innerchr12:71022883..71027860hg19UCSC Ensembl
Innerchr12:69309150..69314127hg18UCSC Ensembl
Innerchr12:69309150..69314127hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg384978
hg194978
hg184978
hg174978
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695565
Samples
Known GenesPTPRB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518144
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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