A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060957



Internal ID18803488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10086444..10511479hg38UCSC Ensembl
Innerchr17:9989761..10414796hg19UCSC Ensembl
Innerchr17:9930486..10355521hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38425036
hg19425036
hg18425036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560342
Samples
Known GenesGAS7, MYH1, MYH13, MYH4, MYH8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060957
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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