A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020793



Internal ID18763327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167934598..168182912hg38UCSC Ensembl
Innerchr6:168335278..168583592hg19UCSC Ensembl
Innerchr6:168078127..168326441hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38248315
hg19248315
hg18248315
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6199n100
Supporting Variantsnssv3655472, nssv3749627, nssv3655473, nssv3749625, nssv3749628, nssv3655471, nssv3655474, nssv3749626
Samples
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020793
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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