A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001971



Internal ID19091188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13060017..13142703hg38UCSC Ensembl
Innerchr2:13200142..13282828hg19UCSC Ensembl
Innerchr2:13117593..13200279hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3882687
hg1982687
hg1882687
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3718n100
Supporting Variantsnssv3576985
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)nsv1001971
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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