A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2463922



Internal ID17539571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73156302..73174453hg38UCSC Ensembl
Innerchr7:72570388..72588493hg19UCSC Ensembl
Innerchr7:72208324..72226429hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3818152
hg1918106
hg1818106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv981524
Supporting Variants
SamplesHGDP01307
Known GenesGTF2IP1, LOC100093631
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2463922
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