A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516324



Internal ID15096931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178983537..178988936hg38UCSC Ensembl
Innerchr5:178410538..178415937hg19UCSC Ensembl
Innerchr5:178343144..178348543hg18UCSC Ensembl
Innerchr5:178343144..178348543hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385400
hg195400
hg185400
hg175400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv364n21
Supporting Variantsnssv675319, nssv673350, nssv683348, nssv685673, nssv667584, nssv677822, nssv678441, nssv655156, nssv660443, nssv686847, nssv683867, nssv661967, nssv674180, nssv669565
Samples
Known GenesGRM6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516324
Frequency
Sample Size2026
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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