A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961033



Internal ID18596280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14838213..14874871hg38UCSC Ensembl
Innerchr18:14838212..14874870hg19UCSC Ensembl
Innerchr18:14828212..14864870hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3836659
hg1936659
hg1836659
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2118703, nssv2118709, nssv2118708, nssv2118704, nssv2118701, nssv2118707, nssv2118706, nssv2118702, nssv2118705, nssv2118700
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD30B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961033
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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