A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2213100



Internal ID17749936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:180869507..180891919hg38UCSC Ensembl
Innerchr2:181734234..181756646hg19UCSC Ensembl
Innerchr2:181442479..181464891hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3822413
hg1922413
hg1822413
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963752
Supporting Variants
SamplesHGDP00521
Known GenesSCHLAP1
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)nssv2213100
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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