A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517662



Internal ID15444955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196741937..196968406hg38UCSC Ensembl
Innerchr1:196711067..196937536hg19UCSC Ensembl
Innerchr1:194977690..195204159hg18UCSC Ensembl
Innerchr1:193442724..193669193hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38226470
hg19226470
hg18226470
hg17226470
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv676100, nssv693393, nssv683373, nssv656317, nssv690089, nssv673198, nssv672799, nssv661866, nssv661312, nssv675277, nssv688588, nssv680461, nssv668040, nssv672911, nssv656959, nssv663228, nssv682103, nssv686478, nssv673551, nssv690860, nssv671682, nssv683875, nssv654746, nssv672206, nssv651925, nssv690431, nssv693421, nssv692982, nssv688785, nssv681886, nssv690907, nssv667438, nssv666065, nssv660533, nssv684708, nssv693684, nssv660285, nssv681618, nssv677519, nssv668575, nssv682511, nssv654942, nssv682460, nssv653014, nssv674229, nssv691893, nssv692864, nssv663315, nssv654398, nssv680731, nssv668873, nssv659463, nssv691800, nssv683502, nssv668121, nssv656134, nssv691509, nssv672882, nssv657391, nssv663103, nssv654769, nssv662830, nssv689994, nssv675192, nssv652755, nssv683756, nssv683039, nssv685788, nssv680369, nssv701939, nssv683794, nssv676069, nssv662553, nssv683833, nssv665742, nssv662918, nssv658117, nssv654982, nssv678060, nssv672958, nssv658360, nssv682278, nssv670751, nssv659933, nssv654895, nssv655141, nssv667817, nssv672723, nssv678800, nssv666917, nssv686574, nssv691995, nssv681662, nssv680789, nssv667636, nssv682340, nssv654208, nssv661893, nssv672822, nssv686247, nssv665964, nssv670627, nssv687921, nssv671425
Samples
Known GenesCFH, CFHR1, CFHR2, CFHR3, CFHR4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517662
Frequency
Sample Size2026
Observed Gain7
Observed Loss97
Observed Complex0
Frequencyn/a


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