A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704041



Internal ID15440693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28644335..28648819hg38UCSC Ensembl
Innerchr2:28867201..28871685hg19UCSC Ensembl
Innerchr2:28720705..28725189hg18UCSC Ensembl
Innerchr2:28778852..28783336hg17UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg384485
hg194485
hg184485
hg174485
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527580
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704041
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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