A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003216



Internal ID18745747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248589903..248645796hg38UCSC Ensembl
Innerchr1:248753204..248809097hg19UCSC Ensembl
Innerchr1:246819827..246875720hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3855894
hg1955894
hg1855894
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv630n100
Supporting Variantsnssv3502118, nssv3487860, nssv3483532, nssv3487420, nssv3493960, nssv3492310
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)nsv1003216
Frequency
Sample Size29084
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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