A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009114



Internal ID19098332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248585881..248645796hg38UCSC Ensembl
Innerchr1:248749182..248809097hg19UCSC Ensembl
Innerchr1:246815805..246875720hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3859916
hg1959916
hg1859916
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv630n100
Supporting Variantsnssv3706728, nssv3485234, nssv3493049, nssv3488978, nssv3499992, nssv3498552, nssv3498449, nssv3490075, nssv3706732, nssv3499230, nssv3495276, nssv3501790, nssv3499514, nssv3498043, nssv3494436, nssv3496563, nssv3485880, nssv3706727, nssv3486648, nssv3706733, nssv3502601, nssv3484613, nssv3490901, nssv3706731, nssv3494731, nssv3496445, nssv3488427, nssv3500423, nssv3706729, nssv3500767, nssv3501871, nssv3501692, nssv3491475, nssv3495735, nssv3494521, nssv3496182, nssv3706730, nssv3501909, nssv3495685, nssv3484740, nssv3495996, nssv3488109, nssv3489493, nssv3488254, nssv3499598
Samples
Known GenesOR2T10, OR2T11, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009114
Frequency
Sample Size11257
Observed Gain1
Observed Loss44
Observed Complex0
Frequencyn/a


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