A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010854



Internal ID19100071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:15703..263270hg38UCSC Ensembl
Innerchr2:15703..263270hg19UCSC Ensembl
Innerchr2:5703..253270hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38247568
hg19247568
hg18247568
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3695n100
Supporting Variantsnssv3571245
Samples
Known GenesFAM110C, SH3YL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010854
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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