A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705377



Internal ID15442029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:3172221..3187198hg38UCSC Ensembl
Innerchr2:3175992..3190969hg19UCSC Ensembl
Innerchr2:3154999..3169976hg18UCSC Ensembl
Innerchr2:4714275..4729252hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3814978
hg1914978
hg1814978
hg1714978
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528723
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705377
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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