A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002788



Internal ID19092005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:209049081..209086087hg38UCSC Ensembl
Innerchr2:209913805..209950811hg19UCSC Ensembl
Innerchr2:209622050..209659056hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3837007
hg1937007
hg1837007
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585607
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002788
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