A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2192432



Internal ID17861524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:100589949..100598341hg38UCSC Ensembl
Innerchr2:101206411..101214803hg19UCSC Ensembl
Innerchr2:100572843..100581235hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg388393
hg198393
hg188393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979075
Supporting Variants
SamplesHGDP01284
Known Genes
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)nssv2192432
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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