A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042699



Internal ID18785230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109324643..109390581hg38UCSC Ensembl
Innerchr12:109762448..109828386hg19UCSC Ensembl
Innerchr12:108246831..108312769hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3865939
hg1965939
hg1865939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524898
Samples
Known GenesMYO1H
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042699
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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