A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575664



Internal ID16016387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:54981377..55081000hg38UCSC Ensembl
Innerchr17:53058738..53158361hg19UCSC Ensembl
Innerchr17:50413737..50513360hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3899624
hg1999624
hg1899624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5708n54
Supporting Variantsnssv874075
Samples
Known GenesSTXBP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575664
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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