A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056567



Internal ID18799098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10338676..10473197hg38UCSC Ensembl
Innerchr21:11039260..11173781hg19UCSC Ensembl
Innerchr21:10061131..10195652hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38134522
hg19134522
hg18134522
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4373n100
Supporting Variantsnssv3585191, nssv3585168, nssv3585192, nssv3585171, nssv3585190, nssv3585170, nssv3585173, nssv3585179, nssv3585187, nssv3585194, nssv3585172, nssv3585176, nssv3585193, nssv3585166, nssv3585180, nssv3585178, nssv3585177, nssv3585189, nssv3585169, nssv3585184, nssv3585165, nssv3585183, nssv3585164, nssv3585182, nssv3585185, nssv3732551, nssv3585188, nssv3585181, nssv3585186, nssv3585167, nssv3585174, nssv3585175
Samples
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056567
Frequency
Sample Size29084
Observed Gain28
Observed Loss4
Observed Complex0
Frequencyn/a


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