A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1053681



Internal ID15560181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31985690..32542208hg38UCSC Ensembl
Innerchr6:31953467..32509985hg19UCSC Ensembl
Innerchr6:32061446..32617963hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38556519
hg19556519
hg18556518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv602018
Supporting Variants
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)nssv1053681
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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