A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601977



Internal ID16042700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31981575..32683279hg38UCSC Ensembl
Innerchr6:31949352..32651056hg19UCSC Ensembl
Innerchr6:32057331..32759034hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38701705
hg19701705
hg18701704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10463n54
Supporting Variantsnssv1053576
Samples
Known GenesAGER, AGPAT1, ATF6B, BTNL2, C4A, C4B, C4B_2, C6orf10, CYP21A1P, CYP21A2, EGFL8, FKBPL, GPSM3, HCG23, HLA-DQA1, HLA-DQB1, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DRB6, 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)nsv601977
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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