A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2071570



Internal ID17765993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:90219000..90226247hg38UCSC Ensembl
Innerchr16:90285408..90292655hg19UCSC Ensembl
Innerchr16:88812909..88820156hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg387248
hg197248
hg187248
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978017
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)nssv2071570
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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