A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011288



Internal ID18753822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235376656..235666302hg38UCSC Ensembl
Innerchr1:235539971..235829602hg19UCSC Ensembl
Innerchr1:233606594..233896225hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38289647
hg19289632
hg18289632
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3491065
Samples
Known GenesB3GALNT2, GNG4, LYST, TBCE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011288
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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