A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575401



Internal ID16016124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46588547..46687409hg38UCSC Ensembl
Innerchr17:44665913..44764775hg19UCSC Ensembl
Innerchr17:42021229..42119955hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3898863
hg1998863
hg1898727
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5660n54
Supporting Variantsnssv872895, nssv872892, nssv872890, nssv872894, nssv872893, nssv872891, nssv872888, nssv872889
Samples
Known GenesNSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575401
Frequency
Sample Size17421
Observed Gain5
Observed Loss3
Observed Complex0
Frequencyn/a


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