A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013096



Internal ID18755627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105058064..105095446hg38UCSC Ensembl
Innerchr2:105674522..105711904hg19UCSC Ensembl
Innerchr2:105040954..105078336hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3837383
hg1937383
hg1837383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580102
Samples
Known GenesMRPS9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013096
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