A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000779



Internal ID19089996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205104414..205199830hg38UCSC Ensembl
Innerchr2:205969138..206064554hg19UCSC Ensembl
Innerchr2:205677383..205772799hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3895417
hg1995417
hg1895417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4154n100
Supporting Variantsnssv3585563
Samples
Known GenesPARD3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000779
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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