A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946024



Internal ID18592874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:82084376..82085560hg38UCSC Ensembl
Innerchr1:82550060..82551244hg19UCSC Ensembl
Innerchr1:82322648..82323832hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381185
hg191185
hg181185
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1772999, nssv1772992, nssv1772995, nssv1772994, nssv1772991, nssv1772993, nssv1772990, nssv1772998, nssv1772997, nssv1772996
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946024
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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