A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967812



Internal ID18256354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:170603891..170605787hg38UCSC Ensembl
Innerchr4:171525042..171526938hg19UCSC Ensembl
Innerchr4:171761617..171763513hg18UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg381897
hg191897
hg181897
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2342631, nssv2342638, nssv2342634, nssv2342636, nssv2342633, nssv2342635, nssv2342630, nssv2342637, nssv2342632, nssv2342629
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)nsv967812
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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