A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946352



Internal ID18593202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143421035..143431401hg38UCSC Ensembl
Innerchr1:148921596..148931958hg19UCSC Ensembl
Innerchr1:147188220..147198582hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3810367
hg1910363
hg1810363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2604445, nssv2604440, nssv2604442, nssv2604448, nssv2604446, nssv2604447, nssv2604441, nssv2604444, nssv2604443, nssv2604449
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101929780, LOC645166
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946352
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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