A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2409139



Internal ID17504919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:52742047..52764677hg38UCSC Ensembl
Innerchr6:52606845..52629475hg19UCSC Ensembl
Innerchr6:52714804..52737434hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3822631
hg1922631
hg1822631
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970121
Supporting Variants
SamplesHGDP01029
Known GenesGSTA2, GSTA7P
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)nssv2409139
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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