A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2103713



Internal ID17863420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:56949978..56952914hg38UCSC Ensembl
Innerchr17:55027339..55030275hg19UCSC Ensembl
Innerchr17:52382338..52385274hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg382937
hg192937
hg182937
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962345
Supporting Variants
SamplesHGDP01284
Known GenesCOIL
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)nssv2103713
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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