A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249112



Internal ID21308855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248585893..248647345hg38UCSC Ensembl
Outerchr1:248574146..248650779hg38UCSC Ensembl
Innerchr1:248749194..248810646hg19UCSC Ensembl
Outerchr1:248737447..248814080hg19UCSC Ensembl
Innerchr1:246815817..246877269hg18UCSC Ensembl
Outerchr1:246804070..246880703hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3876634
hg1976634
hg1876634
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169954
Supporting Variants
SamplesNGO_45
Known GenesOR2T10, OR2T11, OR2T27, OR2T34, OR2T35
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249112
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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