A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056138



Internal ID18798669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:150721..252418hg38UCSC Ensembl
Innerchr17:514..102209hg19UCSC Ensembl
Innerchr17:514..102209hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38101698
hg19101696
hg18101696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560031
Samples
Known GenesDOC2B, LOC100506371, RPH3AL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056138
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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