A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2024648



Internal ID17766511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:55442474..55450160hg38UCSC Ensembl
Innerchr15:55734672..55742358hg19UCSC Ensembl
Innerchr15:53521964..53529650hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg387687
hg197687
hg187687
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984074
Supporting Variants
SamplesHGDP00542
Known GenesDYX1C1, DYX1C1-CCPG1
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)nssv2024648
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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