A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964100



Internal ID18252652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143347590..143350313hg38UCSC Ensembl
Innerchr4:144268743..144271466hg19UCSC Ensembl
Innerchr4:144488193..144490916hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg382724
hg192724
hg182724
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2337107, nssv2337103, nssv2337100, nssv2337104, nssv2337105, nssv2337106, nssv2337099, nssv2337108, nssv2337101, nssv2337102
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGAB1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964100
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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