A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2477417



Internal ID17877005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:129477579..129478171hg38UCSC Ensembl
Innerchr7:129117420..129118012hg19UCSC Ensembl
Innerchr7:128904656..128905248hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38593
hg19593
hg18593
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966886
Supporting Variants
SamplesHGDP01307
Known GenesSTRIP2
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)nssv2477417
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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