A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013895



Internal ID18756427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236716519..236727481hg38UCSC Ensembl
Innerchr1:236879819..236890781hg19UCSC Ensembl
Innerchr1:234946442..234957404hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3810963
hg1910963
hg1810963
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3705534
Samples
Known GenesACTN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013895
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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