A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007821



Internal ID19097040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205468405..205600727hg38UCSC Ensembl
Innerchr2:206333129..206465451hg19UCSC Ensembl
Innerchr2:206041374..206173696hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38132323
hg19132323
hg18132323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585566
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)nsv1007821
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