A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698106



Internal ID15088072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47341773..47469712hg38UCSC Ensembl
Innerchr17:45419139..45547078hg19UCSC Ensembl
Innerchr17:42774138..42902077hg18UCSC Ensembl
Innerchr17:42774138..42902077hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38127940
hg19127940
hg18127940
hg17127940
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516872
Supporting Variants
Samples
Known GenesEFCAB13, MRPL45P2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698106
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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