A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604576



Internal ID16045299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:123189871..124008531hg38UCSC Ensembl
Innerchr6:123511016..124329676hg19UCSC Ensembl
Innerchr6:123552715..124371375hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38818661
hg19818661
hg18818661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10920n54
Supporting Variantsnssv1072363, nssv1072364
Samples
Known GenesNKAIN2, TRDN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604576
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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