A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2534403



Internal ID17781447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:42178932..42214377hg38UCSC Ensembl
Innerchr9:41296753..41332094hg19UCSC Ensembl
Innerchr9:41286753..41322094hg18UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3835446
hg1935342
hg1835342
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982234
Supporting Variants
SamplesHGDP00665
Known GenesSPATA31A4, SPATA31A5, SPATA31A7
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)nssv2534403
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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