A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003356



Internal ID19092575
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 StatusM
Merged Variants
Supporting Variantsnssv3469130
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)nsv1003356
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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