A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2470350



Internal ID17400973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:97851965..97853571hg38UCSC Ensembl
Innerchr7:97481277..97482883hg19UCSC Ensembl
Innerchr7:97319213..97320819hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg381607
hg191607
hg181607
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981551
Supporting Variants
SamplesHGDP00521
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)nssv2470350
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