A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067214



Internal ID19156433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13227749..13719753hg38UCSC Ensembl
Innerchr21:14600070..15092074hg19UCSC Ensembl
Innerchr21:13521941..14013945hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38492005
hg19492005
hg18492005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4381n100
Supporting Variantsnssv3585309
Samples
Known GenesLOC100288966, MIR3156-3, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067214
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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