A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601481



Internal ID16042204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:30454855..31316476hg38UCSC Ensembl
Innerchr6:30422632..31284253hg19UCSC Ensembl
Innerchr6:30530611..31392232hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38861622
hg19861622
hg18861622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1052261
Samples
Known GenesABCF1, ATAT1, C6orf136, C6orf15, CCHCR1, CDSN, DDR1, DHX16, DPCR1, FLOT1, GNL1, GTF2H4, HCG22, HCG27, HLA-C, HLA-E, IER3, MDC1, MIR4640, MIR877, MRPS18B, MUC21, MUC22, NRM, POU5F1, PPP1R10, PPP1R18, PRR3, PSORS1C1, PSORS1C2, PSORS1C3, SFTA2, TCF19, TUBB, VARS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601481
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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