A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1761420



Internal ID17794953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:41098202..41099326hg38UCSC Ensembl
Innerchr1:41563874..41564998hg19UCSC Ensembl
Innerchr1:41336461..41337585hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381125
hg191125
hg181125
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945901
Supporting Variants
SamplesHGDP00778
Known GenesMIR5095, SCMH1
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)nssv1761420
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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