A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961562



Internal ID18596808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:218200405..218203371hg38UCSC Ensembl
Innerchr2:219065128..219068094hg19UCSC Ensembl
Innerchr2:218773373..218776339hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382967
hg192967
hg182967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2221921, nssv2221919, nssv2221914, nssv2221913, nssv2221912, nssv2221915, nssv2221918, nssv2221920, nssv2221916, nssv2221917
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)nsv961562
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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