A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961068



Internal ID18596315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14193350..14200415hg38UCSC Ensembl
Innerchr18:14193349..14200414hg19UCSC Ensembl
Innerchr18:14183349..14190414hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg387066
hg197066
hg187066
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv39n82
Supporting Variantsnssv2657953, nssv2657955, nssv2657950, nssv2657951, nssv2657947, nssv2657948, nssv2657954, nssv2657956, nssv2657952, nssv2657949
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A5P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961068
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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