A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999257



Internal ID18812107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248585881..248661824hg38UCSC Ensembl
Innerchr1:248749182..248825125hg19UCSC Ensembl
Innerchr1:246815805..246891748hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3875944
hg1975944
hg1875944
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv636n100
Supporting Variantsnssv3492444, nssv3491848, nssv3496276, nssv3500859, nssv3489048, nssv3501059, nssv3500271, nssv3495360, nssv3501492, nssv3490895, nssv3487068, nssv3482914, nssv3491081, nssv3482819, nssv3495446, nssv3707643, nssv3498346, nssv3707641, nssv3491070, nssv3500151, nssv3497953, nssv3502533, nssv3486856, nssv3495612, nssv3488748, nssv3492538, nssv3495693, nssv3502349, nssv3486709, nssv3486728, nssv3499266, nssv3492892, nssv3491729, nssv3496768, nssv3707642, nssv3492576
Samples
Known GenesOR2T10, OR2T11, OR2T27, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999257
Frequency
Sample Size29084
Observed Gain1
Observed Loss35
Observed Complex0
Frequencyn/a


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