A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961557



Internal ID18596803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:215561079..215563058hg38UCSC Ensembl
Innerchr2:216425802..216427781hg19UCSC Ensembl
Innerchr2:216134047..216136026hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381980
hg191980
hg181980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2221054, nssv2221058, nssv2221051, nssv2221057, nssv2221055, nssv2221052, nssv2221050, nssv2221053, nssv2221049, nssv2221056
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961557
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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