A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967767



Internal ID18256309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:76666284..76672177hg38UCSC Ensembl
Innerchr4:77587437..77593330hg19UCSC Ensembl
Innerchr4:77806461..77812354hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg385894
hg195894
hg185894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2325192, nssv2325199, nssv2325191, nssv2325198, nssv2325196, nssv2325194, nssv2325190, nssv2325193, nssv2325195, nssv2325197
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSHROOM3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967767
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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