A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2456916



Internal ID17772116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65963361..65980887hg38UCSC Ensembl
Innerchr7:65428348..65445874hg19UCSC Ensembl
Innerchr7:65065783..65083309hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3817527
hg1917527
hg1817527
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981505
Supporting Variants
SamplesHGDP00542
Known GenesGUSB
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)nssv2456916
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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