A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946737



Internal ID18593587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149169896..149186438hg38UCSC Ensembl
Innerchr1:144510636..144527091hg19UCSC Ensembl
Innerchr1:143221993..143238448hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3816543
hg1916456
hg1816456
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2581215, nssv2581216, nssv2581214, nssv2581213, nssv2581220, nssv2581218, nssv2581217, nssv2581212, nssv2581211, nssv2581219
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100288142, LOC728875
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946737
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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