A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2319992



Internal ID17782296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56501637..56503159hg38UCSC Ensembl
Innerchr4:57367803..57369325hg19UCSC Ensembl
Innerchr4:57062560..57064082hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381523
hg191523
hg181523
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964046
Supporting Variants
SamplesHGDP00665
Known GenesSRP72
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)nssv2319992
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