A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000745



Internal ID19089962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:12772..51256hg38UCSC Ensembl
Innerchr2:12772..51256hg19UCSC Ensembl
Innerchr2:2772..41256hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3838485
hg1938485
hg1838485
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3690n100
Supporting Variantsnssv3570471, nssv3570472
Samples
Known GenesFAM110C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000745
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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