A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038242



Internal ID19127461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:54931841..54978121hg38UCSC Ensembl
Innerchr14:55398559..55444839hg19UCSC Ensembl
Innerchr14:54468309..54514589hg18UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3846281
hg1946281
hg1846281
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531024
Samples
Known GenesWDHD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038242
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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