A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2329492



Internal ID17738217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102662072..102663592hg38UCSC Ensembl
Innerchr4:103583229..103584749hg19UCSC Ensembl
Innerchr4:103802277..103803797hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381521
hg191521
hg181521
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980235
Supporting Variants
SamplesHGDP00456
Known GenesMANBA
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)nssv2329492
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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