A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697676



Internal ID15087642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:61684989..61721384hg38UCSC Ensembl
Innerchr12:62078770..62115165hg19UCSC Ensembl
Innerchr12:60365037..60401432hg18UCSC Ensembl
Innerchr12:60365037..60401432hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3836396
hg1936396
hg1836396
hg1736396
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520898
Supporting Variants
Samples
Known GenesFAM19A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697676
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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