A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545246



Internal ID15985969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6379308..6385746hg38UCSC Ensembl
Innerchr1:6439368..6445806hg19UCSC Ensembl
Innerchr1:6361955..6368393hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg386439
hg196439
hg186439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv77n54
Supporting Variantsnssv709166, nssv709180, nssv709174, nssv709170, nssv709171, nssv709169, nssv709182, nssv709179, nssv709168, nssv709173, nssv709183, nssv709181, nssv709186, nssv709184, nssv709175, nssv709185, nssv709176, nssv709177, nssv709172, nssv709167, nssv709178
Samples
Known GenesACOT7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545246
Frequency
Sample Size17421
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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