A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516938



Internal ID6014799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52677709..52788012hg19UCSC Ensembl
Innerchr12:50963976..51074279hg18UCSC Ensembl
Innerchr12:50963976..51074279hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv675578, nssv655061, nssv693628, nssv655081, nssv703104, nssv659892, nssv695650
Samples
Known GenesKRT81, KRT82, KRT83, KRT84, KRT85, KRT86
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv516938
Frequency
Sample Size2026
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer