A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2358558



Internal ID17872041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:65209995..65211740hg38UCSC Ensembl
Innerchr5:64505822..64507567hg19UCSC Ensembl
Innerchr5:64541578..64543323hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg381746
hg191746
hg181746
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980650
Supporting Variants
SamplesHGDP01284
Known GenesADAMTS6
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)nssv2358558
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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