A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601976



Internal ID16042699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31981575..32541110hg38UCSC Ensembl
Innerchr6:31949352..32508887hg19UCSC Ensembl
Innerchr6:32057331..32616865hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38559536
hg19559536
hg18559535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10463n54
Supporting Variantsnssv1053575
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)nsv601976
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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