A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055476



Internal ID19144695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46234092..46674922hg38UCSC Ensembl
Innerchr17:44311458..44752288hg19UCSC Ensembl
Innerchr17:41667235..42107467hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38440831
hg19440831
hg18440233
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3196n100
Supporting Variantsnssv3550246, nssv3550228, nssv3550242, nssv3550236, nssv3550247, nssv3550231, nssv3550241, nssv3725394, nssv3550227, nssv3550243, nssv3550238, nssv3550235, nssv3550229, nssv3550233, nssv3550232, nssv3550245, nssv3550244, nssv3550230, nssv3550234, nssv3725395, nssv3550240, nssv3550237, nssv3550239
Samples
Known GenesARL17A, ARL17B, LOC644172, 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)nsv1055476
Frequency
Sample Size11257
Observed Gain7
Observed Loss16
Observed Complex0
Frequencyn/a


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