A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2301242



Internal ID17836435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:160947206..160948306hg38UCSC Ensembl
Innerchr3:160664994..160666094hg19UCSC Ensembl
Innerchr3:162147688..162148788hg18UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg381101
hg191101
hg181101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979895
Supporting Variants
SamplesHGDP00998
Known GenesPPM1L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2301242
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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