A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001997



Internal ID19091214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:118652982..118675339hg38UCSC Ensembl
Innerchr1:119195605..119217962hg19UCSC Ensembl
Innerchr1:118997128..119019485hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3822358
hg1922358
hg1822358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv298n100
Supporting Variantsnssv3483258
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001997
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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