A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945934



Internal ID18592784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:50013300..50018512hg38UCSC Ensembl
Innerchr1:50478972..50484184hg19UCSC Ensembl
Innerchr1:50251559..50256771hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg385213
hg195213
hg185213
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1764439, nssv1764434, nssv1764433, nssv1764438, nssv1764435, nssv1764440, nssv1764437, nssv1764432, nssv1764436, nssv1764441
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAGBL4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945934
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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