A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701674



Internal ID15091640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71484819..71488316hg38UCSC Ensembl
Innerchr2:71711949..71715446hg19UCSC Ensembl
Innerchr2:71565457..71568954hg18UCSC Ensembl
Innerchr2:71623604..71627101hg17UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg383498
hg193498
hg183498
hg173498
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525538
Supporting Variants
Samples
Known GenesDYSF
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701674
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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