A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946439



Internal ID18593289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158329357..158329857hg38UCSC Ensembl
Innerchr1:158299147..158299647hg19UCSC Ensembl
Innerchr1:156565771..156566271hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1800390, nssv1800387, nssv1800393, nssv1800395, nssv1800389, nssv1800396, nssv1800391, nssv1800394, nssv1800392, nssv1800388
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCD1B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946439
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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