A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027414



Internal ID19116633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:48078087..48398946hg38UCSC Ensembl
Innerchr7:48117684..48438543hg19UCSC Ensembl
Innerchr7:48084209..48409089hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38320860
hg19320860
hg18324881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3661252
Samples
Known GenesABCA13, UPP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027414
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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