A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945663



Internal ID18592514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:8868969..8870395hg38UCSC Ensembl
Innerchr1:143220004..143221431hg19UCSC Ensembl
Innerchr1:142061527..142062954hg18UCSC Ensembl
Cytoband1q12
Allele length
AssemblyAllele length
hg381427
hg191428
hg181428
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2576289, nssv2576223, nssv2576231, nssv2576280, nssv2576229, nssv2576282, nssv2576227, nssv2576225, nssv2576283, nssv2576285, nssv2576288, nssv2576224, nssv2576286, nssv2576228, nssv2576284, nssv2576230, nssv2576226, nssv2576287, nssv2576222, nssv2576281
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945663
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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