A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053923



Internal ID18796454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123642456..123678203hg38UCSC Ensembl
Innerchr12:124127003..124162750hg19UCSC Ensembl
Innerchr12:122692956..122728703hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3835748
hg1935748
hg1835748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1568n100
Supporting Variantsnssv3526112
Samples
Known GenesGTF2H3, TCTN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053923
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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