A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004550



Internal ID19093768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:50023197..50046929hg38UCSC Ensembl
Innerchr2:50250335..50274067hg19UCSC Ensembl
Innerchr2:50103839..50127571hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3823733
hg1923733
hg1823733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581659, nssv3726011
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)nsv1004550
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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