A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575400



Internal ID16362809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46588547..46685223hg38UCSC Ensembl
Innerchr17:44665913..44762589hg19UCSC Ensembl
Innerchr17:42021229..42117769hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3896677
hg1996677
hg1896541
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5660n54
Supporting Variantsnssv872884, nssv872868, nssv872863, nssv872883, nssv872880, nssv872870, nssv872886, nssv872887, nssv872878, nssv872865, nssv872872, nssv872885, nssv872882, nssv872871, nssv872867, nssv872881, nssv872873, nssv872862, nssv872877, nssv872861, nssv872866, nssv872874, nssv872864, nssv872879, nssv872860, nssv872869, nssv872876, nssv872875
Samples
Known GenesNSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575400
Frequency
Sample Size17421
Observed Gain2
Observed Loss26
Observed Complex0
Frequencyn/a


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