A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2475644



Internal ID17808331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:113116180..113117907hg38UCSC Ensembl
Innerchr7:112756235..112757962hg19UCSC Ensembl
Innerchr7:112543471..112545198hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg381728
hg191728
hg181728
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970932
Supporting Variants
SamplesHGDP00778
Known GenesLINC00998
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)nssv2475644
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