A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062988



Internal ID18805519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46317034..46554672hg38UCSC Ensembl
Innerchr17:44394400..44632038hg19UCSC Ensembl
Innerchr17:41750175..41987354hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38237639
hg19237639
hg18237180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3248n100
Supporting Variantsnssv3565932
Samples
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062988
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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