A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601994



Internal ID16042717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31984179..32028820hg38UCSC Ensembl
Innerchr6:31951956..31996597hg19UCSC Ensembl
Innerchr6:32059935..32104592hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3844642
hg1944642
hg1844658
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10466n54
Supporting Variantsnssv1053613, nssv1053611, nssv1053609, nssv1053617, nssv1053618, nssv1053610, nssv1053615, nssv1053614, nssv1053612, nssv1053616
Samples
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, STK19, TNXA, TNXB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601994
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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