A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2025362



Internal ID17404910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:59206826..59208117hg38UCSC Ensembl
Innerchr15:59499025..59500316hg19UCSC Ensembl
Innerchr15:57286317..57287608hg18UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg381292
hg191292
hg181292
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974584
Supporting Variants
SamplesHGDP00521
Known GenesLDHAL6B, MYO1E
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)nssv2025362
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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