A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516807



Internal ID15097414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46032108..46715917hg38UCSC Ensembl
Innerchr17:44109474..44793283hg19UCSC Ensembl
Innerchr17:41465321..42148466hg18UCSC Ensembl
Innerchr17:41465321..42148466hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38683810
hg19683810
hg18683146
hg17683146
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv658048, nssv692847, nssv691158, nssv663621, nssv655810, nssv692966, nssv692120, nssv653920, nssv686898, nssv690497, nssv659686, nssv672762, nssv684503, nssv689789, nssv690549, nssv704510, nssv685440, nssv658913, nssv668756, nssv662883, nssv660510, nssv681799, nssv675258, nssv654776, nssv659797, nssv678391, nssv654824, nssv671089, nssv653726, nssv668405, nssv671261, nssv667026, nssv674658, nssv656209, nssv693332, nssv660247, nssv668270, nssv690324, nssv657220, nssv665687, nssv656434, nssv655665, nssv658347, nssv668954, nssv683743, nssv678668, nssv680964, nssv653977, nssv680996, nssv672374, nssv689702, nssv692058, nssv679540, nssv689668, nssv653460, nssv693206, nssv682369, nssv668987, nssv694030, nssv662247, nssv655181, nssv664105, nssv674367, nssv676197, nssv668901, nssv665517, nssv689115, nssv684314, nssv672016, nssv691724
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516807
Frequency
Sample Size2026
Observed Gain69
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer