A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1980577



Internal ID17861994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21601600..21602760hg38UCSC Ensembl
Innerchr14:22069750..22070911hg19UCSC Ensembl
Innerchr14:21139590..21140751hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381161
hg191162
hg181162
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977444
Supporting Variants
SamplesHGDP01284
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)nssv1980577
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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