A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998939



Internal ID19158476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176298706..176355304hg38UCSC Ensembl
Innerchr2:177163434..177220032hg19UCSC Ensembl
Innerchr2:176871680..176928278hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3856599
hg1956599
hg1856599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4108n100
Supporting Variantsnssv3583076
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)nsv998939
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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