A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1971320



Internal ID17828473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:91897772..91915505hg38UCSC Ensembl
Innerchr13:92550026..92567759hg19UCSC Ensembl
Innerchr13:91348027..91365760hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3817734
hg1917734
hg1817734
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983613
Supporting Variants
SamplesHGDP00998
Known GenesGPC5
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)nssv1971320
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