A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605384



Internal ID16392793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167935400..168191454hg38UCSC Ensembl
Innerchr6:168336080..168592134hg19UCSC Ensembl
Innerchr6:168078929..168334983hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38256055
hg19256055
hg18256055
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11062n54
Supporting Variantsnssv1077148, nssv1077151, nssv1077146, nssv1077154, nssv1077155, nssv1077150, nssv1154906, nssv1077152, nssv1077149, nssv1077153, nssv1077147
SamplesNINDS_103
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)nsv605384
Frequency
Sample Size17421
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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