A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004140



Internal ID18746671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15839166..15924038hg38UCSC Ensembl
Innerchr1:16165661..16250533hg19UCSC Ensembl
Innerchr1:16038248..16123120hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3884873
hg1984873
hg1884873
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv38n100
Supporting Variantsnssv3468065
Samples
Known GenesFLJ37453, SPEN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004140
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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