A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945322



Internal ID18592173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:224296794..224299163hg38UCSC Ensembl
Innerchr1:224484496..224486865hg19UCSC Ensembl
Innerchr1:222551119..222553488hg18UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg382370
hg192370
hg182370
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1819468, nssv1819475, nssv1819470, nssv1819474, nssv1819466, nssv1819467, nssv1819472, nssv1819469, nssv1819471, nssv1819473
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNVL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945322
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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