A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702117



Internal ID15092083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:236153310..236174434hg38UCSC Ensembl
Innerchr2:237061954..237083077hg19UCSC Ensembl
Innerchr2:236726693..236747816hg18UCSC Ensembl
Innerchr2:236843954..236865077hg17UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3821125
hg1921124
hg1821124
hg1721124
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525913
Supporting Variants
Samples
Known GenesGBX2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702117
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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