A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040119



Internal ID18782650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123637829..123668403hg38UCSC Ensembl
Innerchr12:124122376..124152950hg19UCSC Ensembl
Innerchr12:122688329..122718903hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3830575
hg1930575
hg1830575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1568n100
Supporting Variantsnssv3526102
Samples
Known GenesGTF2H3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040119
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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