A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970100



Internal ID18605324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29633896..29637104hg38UCSC Ensembl
Innerchr6:29601673..29604881hg19UCSC Ensembl
Innerchr6:29709652..29712860hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg383209
hg193209
hg183209
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2401043, nssv2401039, nssv2401046, nssv2401041, nssv2401044, nssv2401038, nssv2401042, nssv2401040, nssv2401047, nssv2401045
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970100
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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