A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2480097



Internal ID17851703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:136713892..136716104hg38UCSC Ensembl
Innerchr7:136398639..136400851hg19UCSC Ensembl
Innerchr7:136049179..136051391hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg382213
hg192213
hg182213
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966892
Supporting Variants
SamplesHGDP01029
Known Genes
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)nssv2480097
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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