A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2074768



Internal ID17821540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7954267..7957846hg38UCSC Ensembl
Innerchr17:7857585..7861164hg19UCSC Ensembl
Innerchr17:7798310..7801889hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg383580
hg193580
hg183580
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960402
Supporting Variants
SamplesHGDP00927
Known Genes
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)nssv2074768
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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