A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011144



Internal ID19100361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:50003973..50042958hg38UCSC Ensembl
Innerchr2:50231111..50270096hg19UCSC Ensembl
Innerchr2:50084615..50123600hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3838986
hg1938986
hg1838986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581658
Samples
Known GenesNRXN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011144
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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