A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1856159



Internal ID17448755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46860076..46999741hg38UCSC Ensembl
Innerchr10:48739621..48879286hg19UCSC Ensembl
Innerchr10:48359627..48499292hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38139666
hg19139666
hg18139666
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv947966
Supporting Variants
SamplesHGDP00778
Known GenesFRMPD2P1, PTPN20A, PTPN20B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1856159
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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