A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997881



Internal ID19157417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248876512..248930177hg38UCSC Ensembl
Innerchr1:249170711..249224376hg19UCSC Ensembl
Innerchr1:247137334..247190999hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3853666
hg1953666
hg1853666
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv645n100
Supporting Variantsnssv3485660
Samples
Known GenesPGBD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997881
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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