A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946188



Internal ID18593038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119988968..120072130hg38UCSC Ensembl
Innerchr1:120531591..120614744hg19UCSC Ensembl
Innerchr1:120333114..120416267hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3883163
hg1983154
hg1883154
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1786430, nssv1786437, nssv1786436, nssv1786438, nssv1786435, nssv1786432, nssv1786439, nssv1786431, nssv1786434, nssv1786433
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNOTCH2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946188
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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