A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004908



Internal ID19094125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:50641413..50760006hg38UCSC Ensembl
Innerchr2:50868551..50987144hg19UCSC Ensembl
Innerchr2:50722055..50840648hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38118594
hg19118594
hg18118594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3808n100
Supporting Variantsnssv3581661
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)nsv1004908
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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