A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2371930



Internal ID17751683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111729420..111730920hg38UCSC Ensembl
Innerchr5:111065117..111066617hg19UCSC Ensembl
Innerchr5:111093016..111094516hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg381501
hg191501
hg181501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968975
Supporting Variants
SamplesHGDP00521
Known GenesNREP, STARD4-AS1
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)nssv2371930
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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