A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701139



Internal ID15091105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:126461077..126465340hg38UCSC Ensembl
Innerchr12:126945623..126949886hg19UCSC Ensembl
Innerchr12:125511576..125515839hg18UCSC Ensembl
Innerchr12:125470503..125474766hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg384264
hg194264
hg184264
hg174264
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515762
Supporting Variants
Samples
Known GenesLOC100128554
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701139
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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