A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2383005



Internal ID17879771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150087590..150101746hg38UCSC Ensembl
Innerchr5:149467153..149481309hg19UCSC Ensembl
Innerchr5:149447346..149461502hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3814157
hg1914157
hg1814157
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964963
Supporting Variants
SamplesHGDP01307
Known GenesCSF1R
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)nssv2383005
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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