A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515873



Internal ID15096480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109386681..109404810hg38UCSC Ensembl
Innerchr12:109824486..109842615hg19UCSC Ensembl
Innerchr12:108308869..108326998hg18UCSC Ensembl
Innerchr12:108287206..108305335hg17UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3818130
hg1918130
hg1818130
hg1718130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv693829, nssv665115, nssv654988, nssv682955, nssv656797, nssv656914, nssv656997
Samples
Known GenesMYO1H
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515873
Frequency
Sample Size2026
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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