A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2073764



Internal ID17437760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4827573..4833727hg38UCSC Ensembl
Innerchr17:4730868..4737022hg19UCSC Ensembl
Innerchr17:4677836..4683690hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg386155
hg196155
hg185855
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960043
Supporting Variants
SamplesHGDP00665
Known GenesMINK1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2073764
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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