A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2181117



Internal ID17508068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87848435..87962305hg38UCSC Ensembl
Innerchr2:88147954..88261824hg19UCSC Ensembl
Innerchr2:87929069..88042939hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38113871
hg19113871
hg18113871
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv961809
Supporting Variants
SamplesHGDP01029
Known GenesRGPD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2181117
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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