A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701229



Internal ID15091195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42752929..42758255hg38UCSC Ensembl
Innerchr2:42980069..42985395hg19UCSC Ensembl
Innerchr2:42833573..42838899hg18UCSC Ensembl
Innerchr2:42891720..42897046hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg385327
hg195327
hg185327
hg175327
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519877
Supporting Variants
Samples
Known GenesMTA3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701229
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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