A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2030256



Internal ID17456777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:72058465..72059833hg38UCSC Ensembl
Innerchr15:72350806..72352174hg19UCSC Ensembl
Innerchr15:70137860..70139228hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg381369
hg191369
hg181369
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984089
Supporting Variants
SamplesHGDP00778
Known GenesMYO9A
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)nssv2030256
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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