A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2542863



Internal ID17495629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:67670061..67721653hg38UCSC Ensembl
Innerchr9:46335906..46389835hg19UCSC Ensembl
Innerchr9:46225902..46279831hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3851593
hg1953930
hg1853930
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv968661
Supporting Variants
SamplesHGDP00998
Known GenesFAM27E1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2542863
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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