A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2385955



Internal ID17771282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:171366148..171368067hg38UCSC Ensembl
Innerchr5:170793152..170795071hg19UCSC Ensembl
Innerchr5:170725757..170727676hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381920
hg191920
hg181920
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969014
Supporting Variants
SamplesHGDP00542
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)nssv2385955
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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