A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1755364



Internal ID17521942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19607522..19608469hg38UCSC Ensembl
Innerchr1:19934016..19934963hg19UCSC Ensembl
Innerchr1:19806603..19807550hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38948
hg19948
hg18948
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945809
Supporting Variants
SamplesHGDP01284
Known GenesMINOS1, MINOS1-NBL1, RPS14P3
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)nssv1755364
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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