A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946435



Internal ID18593285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158174372..158175843hg38UCSC Ensembl
Innerchr1:158144162..158145633hg19UCSC Ensembl
Innerchr1:156410786..156412257hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381472
hg191472
hg181472
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1802159, nssv1802162, nssv1802160, nssv1802165, nssv1802158, nssv1802164, nssv1802166, nssv1802161, nssv1802163, nssv1802167
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946435
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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