A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1764432



Internal ID17878006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:50013300..50018512hg38UCSC Ensembl
Innerchr1:50478972..50484184hg19UCSC Ensembl
Innerchr1:50251559..50256771hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg385213
hg195213
hg185213
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945934
Supporting Variants
SamplesHGDP01307
Known GenesAGBL4
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)nssv1764432
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