A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946423



Internal ID18593273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155762452..155767537hg38UCSC Ensembl
Innerchr1:155732243..155737328hg19UCSC Ensembl
Innerchr1:153998867..154003952hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg385086
hg195086
hg185086
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1800689, nssv1800687, nssv1800685, nssv1800686, nssv1800682, nssv1800681, nssv1800688, nssv1800684, nssv1800680, nssv1800683
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGON4L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946423
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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