A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2075773



Internal ID17749476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:8749031..8751105hg38UCSC Ensembl
Innerchr17:8652349..8654423hg19UCSC Ensembl
Innerchr17:8593074..8595148hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382075
hg192075
hg182075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960405
Supporting Variants
SamplesHGDP00521
Known Genes
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)nssv2075773
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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