A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2223892



Internal ID17768083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230513803..230519976hg38UCSC Ensembl
Innerchr2:231378518..231384691hg19UCSC Ensembl
Innerchr2:231086762..231092935hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg386174
hg196174
hg186174
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963777
Supporting Variants
SamplesHGDP00542
Known GenesSP100
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)nssv2223892
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