A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703144



Internal ID15093110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53561701..53700252hg38UCSC Ensembl
Innerchr12:53955485..54094036hg19UCSC Ensembl
Innerchr12:52241752..52380303hg18UCSC Ensembl
Innerchr12:52241752..52380303hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38138552
hg19138552
hg18138552
hg17138552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526791
Supporting Variants
Samples
Known GenesATF7, ATP5G2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703144
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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