A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2209199



Internal ID17732028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:161339932..161340535hg38UCSC Ensembl
Innerchr2:162196443..162197046hg19UCSC Ensembl
Innerchr2:161904689..161905292hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38604
hg19604
hg18604
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv963740
Supporting Variants
SamplesHGDP00456
Known GenesPSMD14
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2209199
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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