A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601999



Internal ID16042722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31984645..32516591hg38UCSC Ensembl
Innerchr6:31952422..32484368hg19UCSC Ensembl
Innerchr6:32060401..32592346hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38531947
hg19531947
hg18531946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10463n54
Supporting Variantsnssv1053625, nssv1053626
Samples
Known GenesAGER, AGPAT1, ATF6B, BTNL2, C4A, C4B, C4B_2, C6orf10, CYP21A1P, CYP21A2, EGFL8, FKBPL, GPSM3, HCG23, HLA-DRA, 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)nsv601999
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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