A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2072824



Internal ID17405248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7311126..7312422hg38UCSC Ensembl
Innerchr17:7214445..7215741hg19UCSC Ensembl
Innerchr17:7155169..7156465hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381297
hg191297
hg181297
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960048
Supporting Variants
SamplesHGDP00521
Known GenesEIF5A
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)nssv2072824
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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