A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002997



Internal ID19092214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176296086..176338618hg38UCSC Ensembl
Innerchr2:177160814..177203346hg19UCSC Ensembl
Innerchr2:176869060..176911592hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3842533
hg1942533
hg1842533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4107n100
Supporting Variantsnssv3583072, nssv3583073
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)nsv1002997
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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