A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2488771



Internal ID17776037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152804468..152817978hg38UCSC Ensembl
Innerchr7:152501553..152515063hg19UCSC Ensembl
Innerchr7:152132486..152145996hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3813511
hg1913511
hg1813511
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv970978
Supporting Variants
SamplesHGDP00542
Known GenesACTR3B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2488771
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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