A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1750342



Internal ID17744414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:5665755..5676552hg38UCSC Ensembl
Innerchr1:5725815..5736612hg19UCSC Ensembl
Innerchr1:5648402..5659199hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3810798
hg1910798
hg1810798
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945753
Supporting Variants
SamplesHGDP00521
Known Genes
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)nssv1750342
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