A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052350



Internal ID18794881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95528912..95686094hg38UCSC Ensembl
Innerchr12:95922688..96079870hg19UCSC Ensembl
Innerchr12:94446819..94604001hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38157183
hg19157183
hg18157183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524830
Samples
Known GenesNTN4, PGAM1P5, USP44
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052350
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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