A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050900



Internal ID18793431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18044861..18109865hg38UCSC Ensembl
Innerchr12:18197795..18262799hg19UCSC Ensembl
Innerchr12:18089062..18154066hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3865005
hg1965005
hg1865005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3517432
Samples
Known GenesRERGL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050900
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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