A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024024



Internal ID18766557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6633144..6698037hg38UCSC Ensembl
Innerchr8:6490665..6555558hg19UCSC Ensembl
Innerchr8:6478073..6542966hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3864894
hg1964894
hg1864894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3677432
Samples
Known GenesMCPH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024024
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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