A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022719



Internal ID19111937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167934598..168199288hg38UCSC Ensembl
Innerchr6:168335278..168599968hg19UCSC Ensembl
Innerchr6:168078127..168342817hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38264691
hg19264691
hg18264691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6199n100
Supporting Variantsnssv3653018, nssv3653019, nssv3653017, nssv3749705, nssv3749706, nssv3749707, nssv3653016, nssv3653020, nssv3653021, nssv3653022
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)nsv1022719
Frequency
Sample Size11257
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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