A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1819212



Internal ID17777170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:224019173..224022953hg38UCSC Ensembl
Innerchr1:224206875..224210655hg19UCSC Ensembl
Innerchr1:222273498..222277278hg18UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg383781
hg193781
hg183781
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv945318
Supporting Variants
SamplesHGDP00665
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1819212
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