A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2576352



Internal ID17750147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:8867034..8868969hg38UCSC Ensembl
Innerchr1:143221431..143223360hg19UCSC Ensembl
Innerchr1:142062954..142064883hg18UCSC Ensembl
Cytoband1q12
Allele length
AssemblyAllele length
hg381936
hg191930
hg181930
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945664
Supporting Variants
SamplesHGDP00521
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2576352
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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