A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058835



Internal ID18801366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10322963..10939602hg38UCSC Ensembl
Innerchr17:10226280..10842919hg19UCSC Ensembl
Innerchr17:10167005..10783644hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38616640
hg19616640
hg18616640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560344
Samples
Known GenesADPRM, LINC00675, MAGOH2, MYH1, MYH13, MYH2, MYH3, MYH4, MYH8, PIRT, SCO1, TMEM220, TMEM220-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058835
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer