A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004838



Internal ID19094055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176280711..176329330hg38UCSC Ensembl
Innerchr2:177145439..177194058hg19UCSC Ensembl
Innerchr2:176853685..176902304hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3848620
hg1948620
hg1848620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4106n100
Supporting Variantsnssv3583044
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)nsv1004838
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer