A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701344



Internal ID15091310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124948072..124953493hg38UCSC Ensembl
Innerchr12:125432618..125438039hg19UCSC Ensembl
Innerchr12:123998571..124003992hg18UCSC Ensembl
Innerchr12:123957498..123962919hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385422
hg195422
hg185422
hg175422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520994
Supporting Variants
Samples
Known GenesDHX37
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701344
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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