A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013780



Internal ID18756312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231055301..231131114hg38UCSC Ensembl
Innerchr2:231920015..231995828hg19UCSC Ensembl
Innerchr2:231628259..231704072hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3875814
hg1975814
hg1875814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4181n100
Supporting Variantsnssv3586868
Samples
Known GenesHTR2B, PSMD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013780
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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