A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516872



Internal ID15097479
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 gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654611, nssv656569, nssv698106
Samples
Known GenesEFCAB13, MRPL45P2, NPEPPS
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516872
Frequency
Sample Size2026
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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