A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586909



Internal ID18538504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233820265..233849893hg38UCSC Ensembl
Innerchr2:234728911..234758539hg19UCSC Ensembl
Innerchr2:234393650..234423278hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3829629
hg1929629
hg1829629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008316
Supporting Variants
Samples
Known GenesHJURP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586909
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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