A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2469268



Internal ID17836984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:96989866..96991094hg38UCSC Ensembl
Innerchr7:96619178..96620406hg19UCSC Ensembl
Innerchr7:96457114..96458342hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg381229
hg191229
hg181229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981549
Supporting Variants
SamplesHGDP00998
Known GenesDLX6-AS1
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)nssv2469268
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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