A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2531138



Internal ID17493390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39280663..39285270hg38UCSC Ensembl
Innerchr9:39280660..39285267hg19UCSC Ensembl
Innerchr9:39270660..39275267hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg384608
hg194608
hg184608
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972318
Supporting Variants
SamplesHGDP00998
Known GenesCNTNAP3
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)nssv2531138
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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