A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601950



Internal ID16042673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31817661..32524531hg38UCSC Ensembl
Innerchr6:31785438..32492308hg19UCSC Ensembl
Innerchr6:31893417..32600286hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38706871
hg19706871
hg18706870
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10463n54
Supporting Variantsnssv1053534, nssv1053533
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)nsv601950
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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