A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021974



Internal ID18764508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69508307..71095414hg38UCSC Ensembl
Innerchr5:68804134..70391241hg19UCSC Ensembl
Innerchr5:68839890..70426997hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381587108
hg191587108
hg181587108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5695n100
Supporting Variantsnssv3640797
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, NAIP, OCLN, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021974
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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