A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701285



Internal ID15091251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:24801129..24813761hg38UCSC Ensembl
Innerchr14:25270335..25282967hg19UCSC Ensembl
Innerchr14:24340175..24352807hg18UCSC Ensembl
Innerchr14:24340175..24352807hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3812633
hg1912633
hg1812633
hg1712633
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525203
Supporting Variants
Samples
Known GenesSTXBP6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701285
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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