A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1973609



Internal ID17487967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:100537842..100541678hg38UCSC Ensembl
Innerchr13:101190096..101193932hg19UCSC Ensembl
Innerchr13:99988097..99991933hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg383837
hg193837
hg183837
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977274
Supporting Variants
SamplesHGDP00998
Known GenesGGACT
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)nssv1973609
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