A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv689330



Internal ID15079296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31113353..31253973hg38UCSC Ensembl
Innerchr12:31266287..31406907hg19UCSC Ensembl
Innerchr12:31157554..31298174hg18UCSC Ensembl
Innerchr12:31157554..31298174hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38140621
hg19140621
hg18140621
hg17140621
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515974
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv689330
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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