A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962502



Internal ID18251059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:26924550..26933353hg38UCSC Ensembl
Innerchr18:24504514..24513317hg19UCSC Ensembl
Innerchr18:22758512..22767315hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg388804
hg198804
hg188804
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2121603, nssv2121600, nssv2121604, nssv2121596, nssv2121601, nssv2121595, nssv2121602, nssv2121597, nssv2121599, nssv2121598
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesAQP4-AS1, CHST9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962502
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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