A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2201880



Internal ID17815950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:121728929..121732207hg38UCSC Ensembl
Innerchr2:122486505..122489783hg19UCSC Ensembl
Innerchr2:122202975..122206253hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383279
hg193279
hg183279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961503
Supporting Variants
SamplesHGDP00927
Known GenesNIFK
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)nssv2201880
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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