A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945850



Internal ID18592700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:27324460..27328836hg38UCSC Ensembl
Innerchr1:27650951..27655327hg19UCSC Ensembl
Innerchr1:27523538..27527914hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg384377
hg194377
hg184377
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1757178, nssv1757183, nssv1757181, nssv1757179, nssv1757176, nssv1757177, nssv1757174, nssv1757182, nssv1757180, nssv1757175
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC644961, TMEM222
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945850
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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