A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517762



Internal ID15445055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71100222..71124357hg38UCSC Ensembl
Innerchr2:71327352..71351487hg19UCSC Ensembl
Innerchr2:71180860..71204995hg18UCSC Ensembl
Innerchr2:71239007..71263142hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3824136
hg1924136
hg1824136
hg1724136
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv666438, nssv688225, nssv670655, nssv655150, nssv661326, nssv665448, nssv669511, nssv662966, nssv657500, nssv689040, nssv672079, nssv661909, nssv679430, nssv662108, nssv664759, nssv691114, nssv685460, nssv676181, nssv659781, nssv670735, nssv658880, nssv652628, nssv686499, nssv671852, nssv666421, nssv656543, nssv669380, nssv688580, nssv659299, nssv658638, nssv675768, nssv651780, nssv656122, nssv672869, nssv687965, nssv667448, nssv662049, nssv665668, nssv693105, nssv678513, nssv662765, nssv655558, nssv658721, nssv686240, nssv671398, nssv683383, nssv682604, nssv661717, nssv689510, nssv676111, nssv666788, nssv684998, nssv670820, nssv686931, nssv693907, nssv651945, nssv690738, nssv657256, nssv675214, nssv654227, nssv681084, nssv657701, nssv676961, nssv675904, nssv681974, nssv659160, nssv654570, nssv653543, nssv657616, nssv692494, nssv686313, nssv656283, nssv689178, nssv660308, nssv653865, nssv687448, nssv681667, nssv693243, nssv681509, nssv689582, nssv677533, nssv684909, nssv668208, nssv682909, nssv680043, nssv685376, nssv657416, nssv665970, nssv673792
Samples
Known GenesMCEE
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517762
Frequency
Sample Size2026
Observed Gain2
Observed Loss99
Observed Complex0
Frequencyn/a


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