A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998878



Internal ID18811728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248599615..248633900hg38UCSC Ensembl
Innerchr1:248762916..248797201hg19UCSC Ensembl
Innerchr1:246829539..246863824hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3834286
hg1934286
hg1834286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv640n100
Supporting Variantsnssv3502371, nssv3484910, nssv3494486, nssv3499984, nssv3495364, nssv3488678, nssv3494822
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)nsv998878
Frequency
Sample Size29084
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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