A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1799148



Internal ID17392680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153459362..153465867hg38UCSC Ensembl
Innerchr1:153431838..153438343hg19UCSC Ensembl
Innerchr1:151698462..151704967hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg386506
hg196506
hg186506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946399
Supporting Variants
SamplesHGDP00456
Known GenesS100A7
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)nssv1799148
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