A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2500343



Internal ID17749923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:38432303..38434664hg38UCSC Ensembl
Innerchr8:38289821..38292182hg19UCSC Ensembl
Innerchr8:38408978..38411339hg18UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg382362
hg192362
hg182362
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971299
Supporting Variants
SamplesHGDP00521
Known GenesFGFR1
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)nssv2500343
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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