A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058348



Internal ID19147567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:55133749..55187831hg38UCSC Ensembl
Innerchr17:53211110..53265192hg19UCSC Ensembl
Innerchr17:50566109..50620191hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3854083
hg1954083
hg1854083
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3724980
Samples
Known GenesSTXBP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058348
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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