A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2430016



Internal ID17429034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160467442..160478795hg38UCSC Ensembl
Innerchr6:160888474..160899827hg19UCSC Ensembl
Innerchr6:160808464..160819817hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3811354
hg1911354
hg1811354
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965781
Supporting Variants
SamplesHGDP00542
Known GenesLPAL2
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)nssv2430016
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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