A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2475308



Internal ID17740374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:111963090..111969876hg38UCSC Ensembl
Innerchr7:111603145..111609931hg19UCSC Ensembl
Innerchr7:111390381..111397167hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg386787
hg196787
hg186787
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966876
Supporting Variants
SamplesHGDP00456
Known GenesDOCK4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2475308
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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