A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1053542



Internal ID15560042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31817676..32516591hg38UCSC Ensembl
Innerchr6:31785453..32484368hg19UCSC Ensembl
Innerchr6:31893432..32592346hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38698916
hg19698916
hg18698915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv601955
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, 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)nssv1053542
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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