A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005749



Internal ID19094966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:116663414..116846147hg38UCSC Ensembl
Innerchr2:117420990..117603723hg19UCSC Ensembl
Innerchr2:117137460..117320193hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38182734
hg19182734
hg18182734
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580275
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)nsv1005749
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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