A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515491



Internal ID15096098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1010792..1016309hg38UCSC Ensembl
Innerchr12:1119958..1125475hg19UCSC Ensembl
Innerchr12:990219..995736hg18UCSC Ensembl
Innerchr12:990219..995736hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385518
hg195518
hg185518
hg175518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv676319, nssv653301
Samples
Known GenesERC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515491
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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