A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2176835



Internal ID17789090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74214095..74215947hg38UCSC Ensembl
Innerchr2:74441222..74443074hg19UCSC Ensembl
Innerchr2:74294730..74296582hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg381853
hg191853
hg181853
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961419
Supporting Variants
SamplesHGDP00665
Known GenesMTHFD2
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)nssv2176835
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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