A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980753



Internal ID18615953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:173084032..173086682hg38UCSC Ensembl
Innerchr5:172511035..172513685hg19UCSC Ensembl
Innerchr5:172443641..172446291hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg382651
hg192651
hg182651
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2386135, nssv2386138, nssv2386139, nssv2386133, nssv2386130, nssv2386137, nssv2386131, nssv2386136, nssv2386134, nssv2386132
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCREBRF
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980753
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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