A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700372



Internal ID15090338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66636861..66641352hg38UCSC Ensembl
Innerchr14:67103579..67108070hg19UCSC Ensembl
Innerchr14:66173332..66177823hg18UCSC Ensembl
Innerchr14:66173332..66177823hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg384492
hg194492
hg184492
hg174492
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524441
Supporting Variants
Samples
Known GenesGPHN
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700372
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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