A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062338



Internal ID19151557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10330021..10388502hg38UCSC Ensembl
Innerchr17:10233338..10291819hg19UCSC Ensembl
Innerchr17:10174063..10232544hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3858482
hg1958482
hg1858482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3098n100
Supporting Variantsnssv3719167
Samples
Known GenesMYH13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062338
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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