A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979186



Internal ID18267703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233718217..233718717hg38UCSC Ensembl
Innerchr2:234626863..234627363hg19UCSC Ensembl
Innerchr2:234291602..234292102hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2225010, nssv2225011, nssv2225009, nssv2225017, nssv2225016, nssv2225018, nssv2225015, nssv2225014, nssv2225012, nssv2225013
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesUGT1A10, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979186
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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