A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009157



Internal ID19098375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:50667796..50913090hg38UCSC Ensembl
Innerchr2:50894934..51140228hg19UCSC Ensembl
Innerchr2:50748438..50993732hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38245295
hg19245295
hg18245295
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3810n100
Supporting Variantsnssv3581668
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)nsv1009157
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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