A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1800202



Internal ID17467528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155591357..155660953hg38UCSC Ensembl
Innerchr1:155561148..155630744hg19UCSC Ensembl
Innerchr1:153827772..153897368hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3869597
hg1969597
hg1869597
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946419
Supporting Variants
SamplesHGDP00927
Known GenesMSTO1, MSTO2P, YY1AP1
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)nssv1800202
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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