A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002982



Internal ID19092199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:12772..106270hg38UCSC Ensembl
Innerchr2:12772..106270hg19UCSC Ensembl
Innerchr2:2772..96270hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3893499
hg1993499
hg1893499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3692n100
Supporting Variantsnssv3570492
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)nsv1002982
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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