A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2519949



Internal ID17872219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:135623735..135625331hg38UCSC Ensembl
Innerchr8:136635978..136637574hg19UCSC Ensembl
Innerchr8:136705160..136706756hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg381597
hg191597
hg181597
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971354
Supporting Variants
SamplesHGDP01284
Known GenesKHDRBS3
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)nssv2519949
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