A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971354



Internal ID18606574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:135623735..135625331hg38UCSC Ensembl
Innerchr8:136635978..136637574hg19UCSC Ensembl
Innerchr8:136705160..136706756hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg381597
hg191597
hg181597
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2519947, nssv2519945, nssv2519952, nssv2519954, nssv2519946, nssv2519949, nssv2519951, nssv2519950, nssv2519953, nssv2519948
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKHDRBS3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971354
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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