A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997707



Internal ID18810557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:118656945..119053326hg38UCSC Ensembl
Innerchr1:119199568..119595949hg19UCSC Ensembl
Innerchr1:119001091..119397472hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38396382
hg19396382
hg18396382
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3485479
Samples
Known GenesTBX15, WARS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997707
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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