A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526102



Internal ID18477697
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 StatusS
Merged Variantsnsv1040119
Supporting Variants
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)nssv3526102
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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