A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971299



Internal ID18606519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:38432303..38434664hg38UCSC Ensembl
Innerchr8:38289821..38292182hg19UCSC Ensembl
Innerchr8:38408978..38411339hg18UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg382362
hg192362
hg182362
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2500351, nssv2500346, nssv2500343, nssv2500347, nssv2500344, nssv2500342, nssv2500348, nssv2500350, nssv2500345, nssv2500349
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFGFR1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971299
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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