A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2220263



Internal ID17767655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205948699..205956017hg38UCSC Ensembl
Innerchr2:206813423..206820741hg19UCSC Ensembl
Innerchr2:206521668..206528986hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387319
hg197319
hg187319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963767
Supporting Variants
SamplesHGDP00542
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)nssv2220263
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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