A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694806



Internal ID15084772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178531033..178533782hg38UCSC Ensembl
Innerchr2:179395760..179398509hg19UCSC Ensembl
Innerchr2:179104006..179106755hg18UCSC Ensembl
Innerchr2:179221267..179224016hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg382750
hg192750
hg182750
hg172750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522036
Supporting Variants
Samples
Known GenesMIR548N, TTN, TTN-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694806
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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