A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2023441



Internal ID17866236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:51351082..51352504hg38UCSC Ensembl
Innerchr15:51643279..51644701hg19UCSC Ensembl
Innerchr15:49430571..49431993hg18UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg381423
hg191423
hg181423
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977716
Supporting Variants
SamplesHGDP01284
Known GenesGLDN
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)nssv2023441
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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