A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002631



Internal ID19091848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176294754..176346166hg38UCSC Ensembl
Innerchr2:177159482..177210894hg19UCSC Ensembl
Innerchr2:176867728..176919140hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3851413
hg1951413
hg1851413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4107n100
Supporting Variantsnssv3583069
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)nsv1002631
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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