A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2180039



Internal ID17864462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86836813..86865932hg38UCSC Ensembl
Innerchr2:87063936..87093055hg19UCSC Ensembl
Innerchr2:86917447..86946566hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3829120
hg1929120
hg1829120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv961428
Supporting Variants
SamplesHGDP01284
Known GenesANAPC1P1, CD8B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2180039
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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