A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2488681



Internal ID17844595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152769987..152775946hg38UCSC Ensembl
Innerchr7:152467072..152473031hg19UCSC Ensembl
Innerchr7:152098005..152103964hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg385960
hg195960
hg185960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966913
Supporting Variants
SamplesHGDP01029
Known GenesACTR3B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2488681
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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