A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979182



Internal ID18614385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231712400..231714924hg38UCSC Ensembl
Innerchr2:232577110..232579634hg19UCSC Ensembl
Innerchr2:232285354..232287878hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382525
hg192525
hg182525
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2224425, nssv2224416, nssv2224421, nssv2224419, nssv2224418, nssv2224423, nssv2224424, nssv2224422, nssv2224420, nssv2224417
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMIR1244-1, MIR1244-2, MIR1244-3, PTMA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979182
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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