A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014217



Internal ID19103437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:50679587..50872643hg38UCSC Ensembl
Innerchr2:50906725..51099781hg19UCSC Ensembl
Innerchr2:50760229..50953285hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38193057
hg19193057
hg18193057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3810n100
Supporting Variantsnssv3581670
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)nsv1014217
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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