A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2424178



Internal ID17879287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:132867828..132869293hg38UCSC Ensembl
Innerchr6:133188967..133190432hg19UCSC Ensembl
Innerchr6:133230660..133232125hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg381466
hg191466
hg181466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969448
Supporting Variants
SamplesHGDP01307
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)nssv2424178
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer