A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970124



Internal ID18605348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:56974297..56981259hg38UCSC Ensembl
Innerchr6:56839095..56846057hg19UCSC Ensembl
Innerchr6:56947054..56954016hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg386963
hg196963
hg186963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2408913, nssv2408909, nssv2408916, nssv2408915, nssv2408910, nssv2408917, nssv2408918, nssv2408911, nssv2408914, nssv2408912
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBEND6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970124
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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