A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv678429



Internal ID15068395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:24020396..24068996hg38UCSC Ensembl
Innerchr14:24489605..24538205hg19UCSC Ensembl
Innerchr14:23559445..23608045hg18UCSC Ensembl
Innerchr14:23559445..23608045hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3848601
hg1948601
hg1848601
hg1748601
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516023
Supporting Variants
Samples
Known GenesDHRS4L1, LRRC16B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv678429
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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