A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064211



Internal ID18806742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46317034..46674905hg38UCSC Ensembl
Innerchr17:44394400..44752271hg19UCSC Ensembl
Innerchr17:41750175..42107450hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38357872
hg19357872
hg18357276
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3253n100
Supporting Variantsnssv3563528, nssv3563529, nssv3563530, nssv3563535, nssv3563533, nssv3563534, nssv3563527, nssv3563532, nssv3563526, nssv3563531
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)nsv1064211
Frequency
Sample Size29084
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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