A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005298



Internal ID18747829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:209413067..209453343hg38UCSC Ensembl
Innerchr2:210277791..210318067hg19UCSC Ensembl
Innerchr2:209986036..210026312hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3840277
hg1940277
hg1840277
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585611
Samples
Known GenesMAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005298
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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