A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2094708



Internal ID17863334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41411462..41411962hg38UCSC Ensembl
Innerchr17:39567714..39568214hg19UCSC Ensembl
Innerchr17:36821240..36821740hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962324
Supporting Variants
SamplesHGDP01284
Known GenesLOC100505782
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)nssv2094708
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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