A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012595



Internal ID19101812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:193679513..193713500hg38UCSC Ensembl
Innerchr1:193648643..193682630hg19UCSC Ensembl
Innerchr1:191915266..191949253hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3833988
hg1933988
hg1833988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3704872
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)nsv1012595
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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