A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2597918



Internal ID17528902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148563916..148565164hg38UCSC Ensembl
Innerchr1:148299019..148300287hg19UCSC Ensembl
Innerchr1:146665643..146666911hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381249
hg191269
hg181269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946931
Supporting Variants
SamplesHGDP01284
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
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)nssv2597918
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