A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601951



Internal ID16042674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31817661..32528971hg38UCSC Ensembl
Innerchr6:31785438..32496748hg19UCSC Ensembl
Innerchr6:31893417..32604726hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38711311
hg19711311
hg18711310
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10463n54
Supporting Variantsnssv1053535
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)nsv601951
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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