A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2664500



Internal ID17841712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91443785..91455689hg38UCSC Ensembl
Innerchr2:91636327..91648065hg19UCSC Ensembl
Innerchr2:91000054..91011792hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg3811905
hg1911739
hg1811739
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961962
Supporting Variants
SamplesHGDP00998
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2664500
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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