A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066730



Internal ID18809261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:779849..816212hg38UCSC Ensembl
Innerchr17:683089..719452hg19UCSC Ensembl
Innerchr17:629839..666202hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3836364
hg1936364
hg1836364
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3075n100
Supporting Variantsnssv3560050
Samples
Known GenesGLOD4, NXN, RNMTL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066730
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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