A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602017



Internal ID16042740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31985690..32537953hg38UCSC Ensembl
Innerchr6:31953467..32505730hg19UCSC Ensembl
Innerchr6:32061446..32613708hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38552264
hg19552264
hg18552263
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10463n54
Supporting Variantsnssv1053679, nssv1053680
Samples
Known GenesAGER, AGPAT1, ATF6B, BTNL2, C4A, C4B, C4B_2, C6orf10, CYP21A1P, CYP21A2, EGFL8, FKBPL, GPSM3, HCG23, HLA-DRA, HLA-DRB5, 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)nsv602017
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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