A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2586329



Internal ID17744943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149510381..149513152hg38UCSC Ensembl
Innerchr1:144178038..144179525hg19UCSC Ensembl
Innerchr1:142889395..142890882hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382772
hg191488
hg181488
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946680
Supporting Variants
SamplesHGDP00521
Known GenesLOC100288142
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2586329
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