A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2198788



Internal ID17834611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111255321..111519301hg38UCSC Ensembl
Innerchr2:112012898..112276878hg19UCSC Ensembl
Innerchr2:111729369..111993349hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38263981
hg19263981
hg18263981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv961868
Supporting Variants
SamplesHGDP00998
Known GenesMIR4435-1, MIR4435-1HG, MIR4435-2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2198788
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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