A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946600



Internal ID18246764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203869707..203870373hg38UCSC Ensembl
Innerchr1:203838835..203839501hg19UCSC Ensembl
Innerchr1:202105458..202106124hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38667
hg19667
hg18667
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1812634, nssv1812632, nssv1812635, nssv1812638, nssv1812636, nssv1812641, nssv1812640, nssv1812637, nssv1812639, nssv1812633
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSNRPE
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946600
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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