A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2525100



Internal ID17875167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:21384196..21385424hg38UCSC Ensembl
Innerchr9:21384195..21385423hg19UCSC Ensembl
Innerchr9:21374195..21375423hg18UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg381229
hg191229
hg181229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982201
Supporting Variants
SamplesHGDP01284
Known GenesIFNA2
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)nssv2525100
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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