A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605387



Internal ID16392796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167935400..168196562hg38UCSC Ensembl
Innerchr6:168336080..168597242hg19UCSC Ensembl
Innerchr6:168078929..168340091hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38261163
hg19261163
hg18261163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11062n54
Supporting Variantsnssv1077177, nssv1077179, nssv1077180, nssv1154918, nssv1154913, nssv1154917, nssv1154914, nssv1077183, nssv1077182, nssv1077178, nssv1077185, nssv1077181, nssv1154916, nssv1154915, nssv1077184
Samples1780854231_A, 1782681236_A, 1780854326_A, 1787431198_A, 1780854444_A, 1780862557_A
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)nsv605387
Frequency
Sample Size17421
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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