A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001730



Internal ID18744261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25601520..25708886hg38UCSC Ensembl
Innerchr2:25824389..25931755hg19UCSC Ensembl
Innerchr2:25677893..25785259hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38107367
hg19107367
hg18107367
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3579130
Samples
Known GenesDTNB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001730
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