A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2396168



Internal ID17493478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26122625..26124547hg38UCSC Ensembl
Innerchr6:26122853..26124775hg19UCSC Ensembl
Innerchr6:26230832..26232754hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381923
hg191923
hg181923
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970082
Supporting Variants
SamplesHGDP00998
Known GenesHIST1H2AC, HIST1H2BC
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)nssv2396168
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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