A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558907



Internal ID15999630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52297319..52383729hg38UCSC Ensembl
Innerchr12:52691103..52777513hg19UCSC Ensembl
Innerchr12:50977370..51063780hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3886411
hg1986411
hg1886411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2630n54
Supporting Variantsnssv795976, nssv795974, nssv1176307, nssv795975
Samples1798860306_A
Known GenesKRT83, KRT84, KRT85, KRT86
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558907
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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