A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2398433



Internal ID17738743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26846936..26876493hg38UCSC Ensembl
Innerchr6:26814715..26844272hg19UCSC Ensembl
Innerchr6:26922694..26952251hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3829558
hg1929558
hg1829558
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv970088
Supporting Variants
SamplesHGDP00456
Known GenesGUSBP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2398433
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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