A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702252



Internal ID15438904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95658107..95665352hg38UCSC Ensembl
Innerchr12:96051883..96059128hg19UCSC Ensembl
Innerchr12:94576014..94583259hg18UCSC Ensembl
Innerchr12:94554351..94561596hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg387246
hg197246
hg187246
hg177246
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526022
Supporting Variants
Samples
Known GenesNTN4, PGAM1P5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702252
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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