A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605415



Internal ID16392824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167943158..168193276hg38UCSC Ensembl
Innerchr6:168343838..168593956hg19UCSC Ensembl
Innerchr6:168086687..168336805hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38250119
hg19250119
hg18250119
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11062n54
Supporting Variantsnssv1077243, nssv1077245, nssv1077244, nssv1077242
Samples
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605415
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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