A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1769024



Internal ID17812184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:56207623..56211748hg38UCSC Ensembl
Innerchr1:56673295..56677420hg19UCSC Ensembl
Innerchr1:56445883..56450008hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg384126
hg194126
hg184126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945964
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)nssv1769024
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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