A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000086



Internal ID19089303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:50879876..51193400hg38UCSC Ensembl
Innerchr2:51107014..51420538hg19UCSC Ensembl
Innerchr2:50960518..51274042hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38313525
hg19313525
hg18313525
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581684
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)nsv1000086
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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