A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2370033



Internal ID17465259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:95887120..95888856hg38UCSC Ensembl
Innerchr5:95222824..95224560hg19UCSC Ensembl
Innerchr5:95248580..95250316hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381737
hg191737
hg181737
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968219
Supporting Variants
SamplesHGDP00927
Known GenesELL2
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)nssv2370033
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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