A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065004



Internal ID18807535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031269..54049092hg38UCSC Ensembl
Innerchr20:52647808..52665631hg19UCSC Ensembl
Innerchr20:52081215..52099038hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3817824
hg1917824
hg1817824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4329n100
Supporting Variantsnssv3586422, nssv3586420, nssv3731488, nssv3586423, nssv3586421
Samples
Known GenesBCAS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065004
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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