A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv656569



Internal ID15046535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47341773..47624914hg38UCSC Ensembl
Innerchr17:45419139..45702280hg19UCSC Ensembl
Innerchr17:42774138..43057279hg18UCSC Ensembl
Innerchr17:42774138..43057279hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38283142
hg19283142
hg18283142
hg17283142
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516872
Supporting Variants
Samples
Known GenesEFCAB13, MRPL45P2, NPEPPS
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv656569
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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