A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703700



Internal ID15093666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51892992..51920604hg38UCSC Ensembl
Innerchr12:52286776..52314388hg19UCSC Ensembl
Innerchr12:50573043..50600655hg18UCSC Ensembl
Innerchr12:50573043..50600655hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3827613
hg1927613
hg1827613
hg1727613
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527286
Supporting Variants
Samples
Known GenesACVRL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703700
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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