A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998057



Internal ID18810907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248599615..248631976hg38UCSC Ensembl
Innerchr1:248762916..248795277hg19UCSC Ensembl
Innerchr1:246829539..246861900hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3832362
hg1932362
hg1832362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv640n100
Supporting Variantsnssv3488245, nssv3494578
Samples
Known GenesOR2T11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998057
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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