A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3487997



Internal ID19075638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235854741..235890432hg38UCSC Ensembl
Innerchr1:236018041..236053732hg19UCSC Ensembl
Innerchr1:234084664..234120355hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3835692
hg1935692
hg1835692
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003013
Supporting Variants
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)nssv3487997
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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