A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3757767



Internal ID18709362
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 StatusS
Merged Variantsnsv1024325
Supporting Variants
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)nssv3757767
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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