A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998821



Internal ID19158357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:265970..309119hg38UCSC Ensembl
Innerchr2:265970..309119hg19UCSC Ensembl
Innerchr2:255970..299119hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3843150
hg1943150
hg1843150
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3698n100
Supporting Variantsnssv3571262
Samples
Known GenesACP1, FAM150B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998821
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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