A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056522



Internal ID18799053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75505498..75542099hg38UCSC Ensembl
Innerchr16:75539396..75575997hg19UCSC Ensembl
Innerchr16:74096897..74133498hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3836602
hg1936602
hg1836602
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719050, nssv3559615, nssv3719046, nssv3559619, nssv3719049, nssv3719044, nssv3559623, nssv3719048, nssv3719051, nssv3559612, nssv3559610, nssv3719037, nssv3559622, nssv3719041, nssv3559614, nssv3719045, nssv3719053, nssv3559613, nssv3559618, nssv3719047, nssv3559607, nssv3559621, nssv3719052, nssv3559611, nssv3719042, nssv3719043, nssv3719039, nssv3559620, nssv3559609, nssv3559608, nssv3719040, nssv3719038, nssv3559624, nssv3559617, nssv3559616
Samples
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056522
Frequency
Sample Size29084
Observed Gain33
Observed Loss2
Observed Complex0
Frequencyn/a


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