A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055534



Internal ID18798065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46267481..46628597hg38UCSC Ensembl
Innerchr17:44344847..44705963hg19UCSC Ensembl
Innerchr17:41700624..42061279hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38361117
hg19361117
hg18360656
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3250n100
Supporting Variantsnssv3564258, nssv3564256, nssv3725397, nssv3564257, nssv3725398
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)nsv1055534
Frequency
Sample Size29084
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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