A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012400



Internal ID18754933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46760315..46831502hg38UCSC Ensembl
Innerchr3:46801805..46872992hg19UCSC Ensembl
Innerchr3:46776809..46847996hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3871188
hg1971188
hg1871188
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4732n100
Supporting Variantsnssv3593769, nssv3593773, nssv3593772, nssv3593770, nssv3593771
Samples
Known GenesPRSS42
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012400
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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