A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980261



Internal ID18615461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143424210..143426110hg38UCSC Ensembl
Innerchr4:144345363..144347263hg19UCSC Ensembl
Innerchr4:144564813..144566713hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg381901
hg191901
hg181901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2337198, nssv2337197, nssv2337201, nssv2337199, nssv2337204, nssv2337202, nssv2337200, nssv2337196, nssv2337205, nssv2337203
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)nsv980261
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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