A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946706



Internal ID18593556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149536526..149537250hg38UCSC Ensembl
Innerchr1:144197948..144198670hg19UCSC Ensembl
Innerchr1:142909305..142910027hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38725
hg19723
hg18723
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2578298, nssv2578261, nssv2578294, nssv2578295, nssv2578299, nssv2578266, nssv2578259, nssv2578263, nssv2578293, nssv2578265, nssv2578264, nssv2578296, nssv2578260, nssv2578300, nssv2578258, nssv2578292, nssv2578291, nssv2578267, nssv2578262, nssv2578297
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100288142
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946706
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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