A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044519



Internal ID19133738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:97663665..97674343hg38UCSC Ensembl
Innerchr14:98130002..98140680hg19UCSC Ensembl
Innerchr14:97199755..97210433hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3810679
hg1910679
hg1810679
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1965n100
Supporting Variantsnssv3532642, nssv3532644, nssv3532648, nssv3532645, nssv3532646, nssv3532643, nssv3532640, nssv3532639, nssv3532641, nssv3532638, nssv3532647
Samples
Known GenesLOC100129345
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044519
Frequency
Sample Size11257
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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