A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517344



Internal ID15444637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:99401288..99442412hg38UCSC Ensembl
Innerchr4:100322445..100363569hg19UCSC Ensembl
Innerchr4:100541468..100582592hg18UCSC Ensembl
Innerchr4:100679623..100720747hg17UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3841125
hg1941125
hg1841125
hg1741125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv666180, nssv651785
Samples
Known GenesADH7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517344
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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