A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058245



Internal ID18800776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:150721..203415hg38UCSC Ensembl
Innerchr17:514..53206hg19UCSC Ensembl
Innerchr17:514..53206hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3852695
hg1952693
hg1852693
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560025, nssv3719130
Samples
Known GenesDOC2B, LOC100506371
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058245
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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