A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2525518



Internal ID17875763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:27607620..27610432hg38UCSC Ensembl
Innerchr9:27607618..27610430hg19UCSC Ensembl
Innerchr9:27597618..27600430hg18UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg382813
hg192813
hg182813
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982205
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)nssv2525518
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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