A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001366



Internal ID19090583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176290690..176338618hg38UCSC Ensembl
Innerchr2:177155418..177203346hg19UCSC Ensembl
Innerchr2:176863664..176911592hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3847929
hg1947929
hg1847929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4107n100
Supporting Variantsnssv3583053, nssv3583054
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)nsv1001366
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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