A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034243



Internal ID19123465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12513862..12693247hg38UCSC Ensembl
Innerchr8:12371371..12550756hg19UCSC Ensembl
Innerchr8:12415742..12595127hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38179386
hg19179386
hg18179386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7077n100
Supporting Variantsnssv3760191
Samples
Known GenesLOC100506990, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034243
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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