A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2554772



Internal ID17747481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:81930022..81933271hg38UCSC Ensembl
Innerchr9:84544937..84548186hg19UCSC Ensembl
Innerchr9:83734757..83738006hg18UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg383250
hg193250
hg183250
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972764
Supporting Variants
SamplesHGDP00521
Known GenesSPATA31D4
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)nssv2554772
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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