A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012727



Internal ID19101944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176290690..176329330hg38UCSC Ensembl
Innerchr2:177155418..177194058hg19UCSC Ensembl
Innerchr2:176863664..176902304hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3838641
hg1938641
hg1838641
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4106n100
Supporting Variantsnssv3583049, nssv3583047, nssv3583050, nssv3583048
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)nsv1012727
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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