A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2530979



Internal ID17526152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39195422..39216538hg38UCSC Ensembl
Innerchr9:39195419..39216535hg19UCSC Ensembl
Innerchr9:39185419..39206535hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3821117
hg1921117
hg1821117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv982221
Supporting Variants
SamplesHGDP01284
Known GenesCNTNAP3
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)nssv2530979
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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