A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005865



Internal ID19095082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176290690..176345565hg38UCSC Ensembl
Innerchr2:177155418..177210293hg19UCSC Ensembl
Innerchr2:176863664..176918539hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3854876
hg1954876
hg1854876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4107n100
Supporting Variantsnssv3583058
Samples
Known GenesMTX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005865
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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