A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003215



Internal ID19092433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238559229..238634944hg38UCSC Ensembl
Innerchr1:238722529..238798244hg19UCSC Ensembl
Innerchr1:236789152..236864867hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3875716
hg1975716
hg1875716
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3488191
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003215
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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