A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605331



Internal ID16392740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:166783961..166784539hg38UCSC Ensembl
Innerchr6:167197449..167198027hg19UCSC Ensembl
Innerchr6:167117439..167118017hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38579
hg19579
hg18579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11054n54
Supporting Variantsnssv1076663, nssv1076660, nssv1076676, nssv1076662, nssv1076669, nssv1076667, nssv1076664, nssv1076674, nssv1076673, nssv1076670, nssv1076661, nssv1076666, nssv1076672, nssv1076665, nssv1076659, nssv1076668, nssv1076675, nssv1076671
Samples
Known GenesRPS6KA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605331
Frequency
Sample Size17421
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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