A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv738181



Internal ID15685451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235375705..235548388hg38UCSC Ensembl
Innerchr1:235539020..235711688hg19UCSC Ensembl
Innerchr1:233605643..233778311hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38172684
hg19172669
hg18172669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549392
Supporting Variants
Samples
Known GenesB3GALNT2, GNG4, TBCE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv738181
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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