A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1850501



Internal ID17522790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50157958..50202135hg38UCSC Ensembl
Innerchr10:51917718..51961895hg19UCSC Ensembl
Innerchr10:51587724..51631901hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3844178
hg1944178
hg1844178
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv948004
Supporting Variants
SamplesHGDP01284
Known GenesASAH2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1850501
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