A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021722



Internal ID19110940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76133190..76154722hg38UCSC Ensembl
Innerchr5:75429015..75450547hg19UCSC Ensembl
Innerchr5:75464771..75486303hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3821533
hg1921533
hg1821533
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5700n100
Supporting Variantsnssv3641076
Samples
Known GenesSV2C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021722
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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