A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575402



Internal ID16362811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46588547..46696320hg38UCSC Ensembl
Innerchr17:44665913..44773686hg19UCSC Ensembl
Innerchr17:42021229..42128870hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38107774
hg19107774
hg18107642
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5660n54
Supporting Variantsnssv872896, nssv872898, nssv872902, nssv872901, nssv872903, nssv872905, nssv872904, nssv872900, nssv872899, nssv872897
Samples
Known GenesNSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575402
Frequency
Sample Size17421
Observed Gain1
Observed Loss9
Observed Complex0
Frequencyn/a


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