A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2423372



Internal ID17771552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:128928203..128929527hg38UCSC Ensembl
Innerchr6:129249348..129250672hg19UCSC Ensembl
Innerchr6:129291041..129292365hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg381325
hg191325
hg181325
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965763
Supporting Variants
SamplesHGDP00542
Known GenesLAMA2
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)nssv2423372
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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