A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970088



Internal ID18605312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26846936..26876493hg38UCSC Ensembl
Innerchr6:26814715..26844272hg19UCSC Ensembl
Innerchr6:26922694..26952251hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3829558
hg1929558
hg1829558
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2398435, nssv2398432, nssv2398434, nssv2398433, nssv2398428, nssv2398431, nssv2398430, nssv2398429, nssv2398437, nssv2398436
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGUSBP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970088
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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