A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702912



Internal ID15092878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109131263..109140147hg38UCSC Ensembl
Innerchr12:109569068..109577952hg19UCSC Ensembl
Innerchr12:108053451..108062335hg18UCSC Ensembl
Innerchr12:108031788..108040672hg17UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg388885
hg198885
hg188885
hg178885
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526593
Supporting Variants
Samples
Known GenesACACB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702912
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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