A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517412



Internal ID15098019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238113049..238174335hg38UCSC Ensembl
Innerchr2:239021690..239082976hg19UCSC Ensembl
Innerchr2:238686429..238747715hg18UCSC Ensembl
Innerchr2:238803690..238864976hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3861287
hg1961287
hg1861287
hg1761287
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv673308, nssv671443, nssv662409, nssv669153, nssv688661, nssv664287, nssv654760, nssv671151, nssv674565, nssv681531, nssv666923, nssv661297, nssv704629, nssv676932, nssv657253, nssv651943, nssv690267, nssv670782, nssv680171, nssv660057, nssv666649, nssv673436, nssv667404, nssv664006, nssv685515, nssv668850, nssv673847, nssv669751, nssv679126, nssv679407, nssv681465, nssv658327, nssv661539, nssv663758, nssv672180, nssv661958, nssv666825, nssv658975, nssv663733, nssv674475, nssv691482, nssv676748, nssv690130, nssv677771, nssv660181, nssv687497, nssv657046, nssv686811, nssv697026, nssv683237, nssv701300
Samples
Known GenesESPNL, ILKAP, KLHL30
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517412
Frequency
Sample Size2026
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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