A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004960



Internal ID18747491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248524489..248633900hg38UCSC Ensembl
Innerchr1:248687790..248797201hg19UCSC Ensembl
Innerchr1:246754413..246863824hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38109412
hg19109412
hg18109412
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv620n100
Supporting Variantsnssv3487557, nssv3495827, nssv3500279, nssv3485518, nssv3492014
Samples
Known GenesOR2T10, OR2T11, OR2T29, OR2T34
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004960
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer