A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978356



Internal ID18266875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7451184..7454586hg38UCSC Ensembl
Innerchr17:7354503..7357905hg19UCSC Ensembl
Innerchr17:7295227..7298629hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg383403
hg193403
hg183403
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2072922, nssv2072925, nssv2072920, nssv2072921, nssv2072923, nssv2072927, nssv2072924, nssv2072928, nssv2072929, nssv2072926
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCHRNB1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978356
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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