A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1053543



Internal ID15560043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31817676..32524531hg38UCSC Ensembl
Innerchr6:31785453..32492308hg19UCSC Ensembl
Innerchr6:31893432..32600286hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38706856
hg19706856
hg18706855
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv601956
Supporting Variants
Samples
Known GenesAGER, AGPAT1, ATF6B, BTNL2, C2, C4A, C4B, C4B_2, C6orf10, C6orf48, CFB, CYP21A1P, CYP21A2, DXO, EGFL8, EHMT2, FKBPL, GPSM3, HCG23, HLA-DRA, HLA-DRB5, HSPA1A, HSPA1B, LOC100507547, LOC102060414, MIR1236, MIR6721, MIR6833, NELFE, NEU1, NOTCH4, PBX2, PPT2, PPT2-EGFL8, PRRT1, RNF5, RNF5P1, SKIV2L, SLC44A4, SNORD48, SNORD52, STK19, TNXA, TNXB, ZBTB12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1053543
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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