A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575406



Internal ID16362815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46588547..46704811hg38UCSC Ensembl
Innerchr17:44665913..44782177hg19UCSC Ensembl
Innerchr17:42021229..42137359hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38116265
hg19116265
hg18116131
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5660n54
Supporting Variantsnssv872918, nssv872930, nssv872924, nssv872920, nssv872932, nssv872919, nssv872925, nssv872922, nssv872927, nssv872921, nssv872931, nssv872928, nssv872926, nssv872929, nssv872923
Samples
Known GenesNSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575406
Frequency
Sample Size17421
Observed Gain8
Observed Loss7
Observed Complex0
Frequencyn/a


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