A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705122



Internal ID15441774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62663603..62723827hg38UCSC Ensembl
Innerchr17:60740964..60801188hg19UCSC Ensembl
Innerchr17:58094696..58154920hg18UCSC Ensembl
Innerchr17:58094696..58154920hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3860225
hg1960225
hg1860225
hg1760225
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516921
Supporting Variants
Samples
Known GenesMARCH10, MIR548W, MRC2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705122
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer