A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602016



Internal ID16042739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31985690..32516591hg38UCSC Ensembl
Innerchr6:31953467..32484368hg19UCSC Ensembl
Innerchr6:32061446..32592346hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38530902
hg19530902
hg18530901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10463n54
Supporting Variantsnssv1053678, nssv1053675, nssv1053663, nssv1053677, nssv1053660, nssv1053673, nssv1053672, nssv1053662, nssv1053665, nssv1053668, nssv1053667, nssv1053671, nssv1053676, nssv1053661, nssv1053664, nssv1053666, nssv1053669, nssv1053670, nssv1053674
Samples
Known GenesAGER, AGPAT1, ATF6B, BTNL2, C4A, C4B, C4B_2, C6orf10, CYP21A1P, CYP21A2, EGFL8, FKBPL, GPSM3, HCG23, HLA-DRA, LOC100507547, MIR6721, MIR6833, NOTCH4, PBX2, PPT2, PPT2-EGFL8, PRRT1, RNF5, RNF5P1, STK19, TNXA, TNXB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602016
Frequency
Sample Size17421
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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