A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946399



Internal ID18246563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153459362..153465867hg38UCSC Ensembl
Innerchr1:153431838..153438343hg19UCSC Ensembl
Innerchr1:151698462..151704967hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg386506
hg196506
hg186506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1799146, nssv1799148, nssv1799143, nssv1799151, nssv1799147, nssv1799152, nssv1799145, nssv1799150, nssv1799144, nssv1799149
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesS100A7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946399
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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