A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010175



Internal ID18752706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54065814..54116329hg38UCSC Ensembl
Innerchr2:54292951..54343466hg19UCSC Ensembl
Innerchr2:54146455..54196970hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3850516
hg1950516
hg1850516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3576633
Samples
Known GenesACYP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010175
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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