A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605386



Internal ID16392795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167935400..168195571hg38UCSC Ensembl
Innerchr6:168336080..168596251hg19UCSC Ensembl
Innerchr6:168078929..168339100hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38260172
hg19260172
hg18260172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11062n54
Supporting Variantsnssv1077172, nssv1154911, nssv1077171, nssv1077174, nssv1077176, nssv1154910, nssv1077173, nssv1077175, nssv1154912
SamplesNINDS_195, 1798860592_A, NINDS_256
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)nsv605386
Frequency
Sample Size17421
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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