A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012487



Internal ID19101704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176294754..176349860hg38UCSC Ensembl
Innerchr2:177159482..177214588hg19UCSC Ensembl
Innerchr2:176867728..176922834hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3855107
hg1955107
hg1855107
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4107n100
Supporting Variantsnssv3583070
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)nsv1012487
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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