A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2030655



Internal ID17424487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:70858801..70861732hg38UCSC Ensembl
Innerchr15:71151140..71154071hg19UCSC Ensembl
Innerchr15:68938194..68941125hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg382932
hg192932
hg182932
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977731
Supporting Variants
SamplesHGDP00542
Known GenesLRRC49
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)nssv2030655
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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