A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040831



Internal ID18783362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128749443..129516029hg38UCSC Ensembl
Innerchr12:129233988..130000574hg19UCSC Ensembl
Innerchr12:127799941..128566527hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38766587
hg19766587
hg18766587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712630
Samples
Known GenesGLT1D1, LOC283352, SLC15A4, TMEM132D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040831
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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