A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515858



Internal ID15096465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247620588..248705477hg38UCSC Ensembl
Innerchr1:247783890..248868778hg19UCSC Ensembl
Innerchr1:245850513..246935401hg18UCSC Ensembl
Innerchr1:244109931..245194816hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381084890
hg191084889
hg181084889
hg171084886
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv692239, nssv685153, nssv663229, nssv665034, nssv701896, nssv705170, nssv680499, nssv663332, nssv669542, nssv699878, nssv685956, nssv688039, nssv680387, nssv695919, nssv675536, nssv687997, nssv690861, nssv665551, nssv662693, nssv699854, nssv663459, nssv678232, nssv667555, nssv698574, nssv666845, nssv657573, nssv705468, nssv683771, nssv675717
Samples
Known GenesOR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2G6, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR6F1, TRIM58
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515858
Frequency
Sample Size2026
Observed Gain21
Observed Loss8
Observed Complex0
Frequencyn/a


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