A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3469130



Internal ID19063205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:74517997..74559254hg38UCSC Ensembl
Innerchr1:74983681..75024938hg19UCSC Ensembl
Innerchr1:74756269..74797526hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3841258
hg1941258
hg1841258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003356
Supporting Variants
Samples
Known GenesFPGT-TNNI3K, TNNI3K
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3469130
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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