A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1847534



Internal ID17869302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48064367..48181515hg38UCSC Ensembl
Innerchr10:49272407..49389558hg19UCSC Ensembl
Innerchr10:48942413..49059564hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38117149
hg19117152
hg18117152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv947975
Supporting Variants
SamplesHGDP01284
Known GenesFRMPD2, FRMPD2P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1847534
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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