A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2529830



Internal ID17432291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39081452..39195422hg38UCSC Ensembl
Innerchr9:39081449..39195419hg19UCSC Ensembl
Innerchr9:39071449..39185419hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38113971
hg19113971
hg18113971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982220
Supporting Variants
SamplesHGDP00665
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)nssv2529830
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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