A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946527



Internal ID18246691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180260433..180262521hg38UCSC Ensembl
Innerchr1:180229568..180231656hg19UCSC Ensembl
Innerchr1:178496191..178498279hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382089
hg192089
hg182089
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1809353, nssv1809351, nssv1809356, nssv1809357, nssv1809355, nssv1809349, nssv1809354, nssv1809352, nssv1809350, nssv1809358
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLHX4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946527
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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