A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010641



Internal ID18753173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248585881..248655170hg38UCSC Ensembl
Innerchr1:248749182..248818471hg19UCSC Ensembl
Innerchr1:246815805..246885094hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3869290
hg1969290
hg1869290
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv630n100
Supporting Variantsnssv3707640, nssv3502415, nssv3488579, nssv3492167, nssv3501084, nssv3491099, nssv3707639, nssv3496048, nssv3485481, nssv3500878, nssv3488449, nssv3707635, nssv3490919, nssv3482824, nssv3707636, nssv3486760, nssv3707638, nssv3484292, nssv3707637, nssv3483567, nssv3496556
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)nsv1010641
Frequency
Sample Size29084
Observed Gain1
Observed Loss20
Observed Complex0
Frequencyn/a


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