A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997448



Internal ID19156984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:192354481..192464427hg38UCSC Ensembl
Innerchr2:193219207..193329153hg19UCSC Ensembl
Innerchr2:192927452..193037398hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38109947
hg19109947
hg18109947
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583899
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997448
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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