A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2553596



Internal ID17737993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:79389889..79393537hg38UCSC Ensembl
Innerchr9:82004804..82008452hg19UCSC Ensembl
Innerchr9:81194624..81198272hg18UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg383649
hg193649
hg183649
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982310
Supporting Variants
SamplesHGDP00456
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)nssv2553596
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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