A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2544181



Internal ID17432983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:62249739..62386182hg38UCSC Ensembl
Innerchr9:46561040..46697483hg19UCSC Ensembl
Innerchr9:46400757..46537479hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg38136444
hg19136444
hg18136723
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv968665
Supporting Variants
SamplesHGDP00665
Known GenesKGFLP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2544181
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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