A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945436



Internal ID18245601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246999480..247008426hg38UCSC Ensembl
Innerchr1:247162782..247171728hg19UCSC Ensembl
Innerchr1:245229405..245238351hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg388947
hg198947
hg188947
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1827598, nssv1827597, nssv1827594, nssv1827592, nssv1827591, nssv1827600, nssv1827593, nssv1827595, nssv1827599, nssv1827596
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesZNF670-ZNF695, ZNF695
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945436
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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