A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517130



Internal ID15097737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:70754855..70757450hg38UCSC Ensembl
Innerchr10:72514611..72517206hg19UCSC Ensembl
Innerchr10:72184617..72187212hg18UCSC Ensembl
Innerchr10:72184617..72187212hg17UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg382596
hg192596
hg182596
hg172596
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv672209, nssv673301, nssv672614, nssv688462, nssv692795, nssv689059, nssv678841, nssv676353, nssv670949, nssv692865, nssv670432, nssv683853, nssv683877, nssv681820, nssv677718, nssv680694, nssv692251, nssv658964, nssv652163, nssv685658, nssv661134, nssv666989, nssv674155, nssv692843, nssv667557, nssv654662, nssv662459, nssv675079, nssv677568, nssv674893, nssv697935, nssv685476, nssv683180, nssv660168, nssv659491, nssv685509, nssv676678, nssv680955, nssv668717, nssv677912, nssv672365, nssv667282, nssv675439, nssv657066, nssv678135, nssv659324, nssv671084, nssv681073, nssv662072, nssv685722, nssv685863, nssv669445, nssv653631, nssv675222, nssv651807, nssv692913, nssv672170, nssv691447, nssv656995
Samples
Known GenesADAMTS14
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517130
Frequency
Sample Size2026
Observed Gain58
Observed Loss1
Observed Complex0
Frequencyn/a


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