A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1781064



Internal ID17532886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103614411..103633444hg38UCSC Ensembl
Innerchr1:104157033..104176066hg19UCSC Ensembl
Innerchr1:103958556..103977589hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3819034
hg1919034
hg1819034
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946109
Supporting Variants
SamplesHGDP01307
Known GenesAMY2A
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)nssv1781064
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