A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008316



Internal ID18750847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233820265..233849893hg38UCSC Ensembl
Innerchr2:234728911..234758539hg19UCSC Ensembl
Innerchr2:234393650..234423278hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3829629
hg1929629
hg1829629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586909
Samples
Known GenesHJURP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008316
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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