A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051433



Internal ID18793964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128679360..128888555hg38UCSC Ensembl
Innerchr12:129163905..129373100hg19UCSC Ensembl
Innerchr12:127729858..127939053hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38209196
hg19209196
hg18209196
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526166
Samples
Known GenesGLT1D1, SLC15A4, TMEM132C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051433
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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