A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2164779



Internal ID17750722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24330045..24332380hg38UCSC Ensembl
Innerchr2:24552914..24555249hg19UCSC Ensembl
Innerchr2:24406418..24408753hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382336
hg192336
hg182336
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961387
Supporting Variants
SamplesHGDP00521
Known GenesITSN2
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)nssv2164779
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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