A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001559



Internal ID18744090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197281159..197371942hg38UCSC Ensembl
Innerchr2:198145883..198236666hg19UCSC Ensembl
Innerchr2:197854128..197944911hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3890784
hg1990784
hg1890784
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4149n100
Supporting Variantsnssv3583988
Samples
Known GenesANKRD44
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001559
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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