A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057676



Internal ID18800207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46331284..46708304hg38UCSC Ensembl
Innerchr17:44408650..44785670hg19UCSC Ensembl
Innerchr17:41764411..42140851hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38377021
hg19377021
hg18376441
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3251n100
Supporting Variantsnssv3568343
Samples
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057676
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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