A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011448



Internal ID19100665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:15703..60213hg38UCSC Ensembl
Innerchr2:15703..60213hg19UCSC Ensembl
Innerchr2:5703..50213hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3844511
hg1944511
hg1844511
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3690n100
Supporting Variantsnssv3571235, nssv3571236
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)nsv1011448
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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