A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549480



Internal ID15990203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243619472..243620246hg38UCSC Ensembl
Innerchr1:243782774..243783548hg19UCSC Ensembl
Innerchr1:241849397..241850171hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38775
hg19775
hg18775
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739229, nssv739199, nssv739174, nssv739224, nssv739179, nssv739188, nssv739209, nssv739164, nssv739245, nssv739241, nssv739227, nssv739223, nssv739230, nssv739200, nssv739161, nssv739201, nssv739225, nssv739237, nssv739189, nssv739165, nssv739236, nssv739222, nssv739186, nssv739159, nssv739197, nssv739234, nssv739212, nssv739180, nssv739239, nssv739185, nssv739173, nssv739198, nssv739205, nssv739160, nssv739191, nssv739216, nssv739182, nssv739196, nssv739232, nssv739218, nssv739202, nssv739221, nssv739220, nssv739177, nssv739178, nssv739167, nssv739240, nssv739235, nssv739175, nssv739243, nssv739231, nssv739162, nssv739194, nssv739215, nssv739233, nssv739210, nssv739244, nssv739204, nssv739192, nssv739168, nssv739203, nssv739206, nssv739242, nssv739193, nssv739181, nssv739171, nssv739226, nssv739213, nssv739184, nssv739190, nssv739207, nssv739166, nssv739176, nssv739228, nssv739163, nssv739169, nssv739219, nssv739172, nssv739208, nssv739238, nssv739195, nssv739211, nssv739214, nssv739217, nssv739183, nssv739170, nssv739187
Samples
Known GenesAKT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549480
Frequency
Sample Size17421
Observed Gain0
Observed Loss87
Observed Complex0
Frequencyn/a


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