A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695565



Internal ID15085531
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 StatusS
Merged Variantsnsv518144
Supporting Variants
Samples
Known GenesPTPRB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695565
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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