A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2394122



Internal ID17777687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:13517545..13522742hg38UCSC Ensembl
Innerchr6:13517777..13522974hg19UCSC Ensembl
Innerchr6:13625756..13630953hg18UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg385198
hg195198
hg185198
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969350
Supporting Variants
SamplesHGDP00665
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)nssv2394122
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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