A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002410



Internal ID19091627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235860657..235892305hg38UCSC Ensembl
Innerchr1:236023957..236055605hg19UCSC Ensembl
Innerchr1:234090580..234122228hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3831649
hg1931649
hg1831649
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv589n100
Supporting Variantsnssv3493134, nssv3705533
Samples
Known GenesLYST
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002410
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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