A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1860927



Internal ID17415927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:88935211..88935821hg38UCSC Ensembl
Innerchr10:90694968..90695578hg19UCSC Ensembl
Innerchr10:90684948..90685558hg18UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg38611
hg19611
hg18611
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948130
Supporting Variants
SamplesHGDP00542
Known GenesACTA2
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)nssv1860927
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