A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2074865



Internal ID17821738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:8022595..8025325hg38UCSC Ensembl
Innerchr17:7925913..7928643hg19UCSC Ensembl
Innerchr17:7866638..7869368hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382731
hg192731
hg182731
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978357
Supporting Variants
SamplesHGDP00927
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)nssv2074865
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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