A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968988



Internal ID18604216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:132997217..132999641hg38UCSC Ensembl
Innerchr5:132332909..132335333hg19UCSC Ensembl
Innerchr5:132360808..132363232hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382425
hg192425
hg182425
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2376453, nssv2376457, nssv2376455, nssv2376461, nssv2376458, nssv2376462, nssv2376459, nssv2376460, nssv2376454, nssv2376456
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZCCHC10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968988
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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