A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2469404



Internal ID17490798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:97860050..97871380hg38UCSC Ensembl
Innerchr7:97489362..97500692hg19UCSC Ensembl
Innerchr7:97327298..97338628hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3811331
hg1911331
hg1811331
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970554
Supporting Variants
SamplesHGDP00998
Known GenesASNS
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)nssv2469404
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