A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058603



Internal ID18801134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:5200501..5327634hg38UCSC Ensembl
Innerchr17:5103796..5230929hg19UCSC Ensembl
Innerchr17:5044520..5171653hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38127134
hg19127134
hg18127134
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3089n100
Supporting Variantsnssv3560133
Samples
Known GenesLOC100130950, RABEP1, SCIMP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058603
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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