A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024325



Internal ID18766858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:651043..3203837hg38UCSC Ensembl
Innerchr8:601043..3061359hg19UCSC Ensembl
Innerchr8:591043..3048766hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382552795
hg192460317
hg182457724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3757767
Samples
Known GenesARHGEF10, CLN8, CSMD1, DLGAP2, ERICH1, ERICH1-AS1, KBTBD11, LOC100507435, LOC286083, MIR596, MIR7160, MYOM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024325
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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