A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701218



Internal ID15437870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76481096..76523218hg38UCSC Ensembl
Innerchr17:74477178..74519300hg19UCSC Ensembl
Innerchr17:71988773..72030895hg18UCSC Ensembl
Innerchr17:71988773..72030895hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3842123
hg1942123
hg1842123
hg1742123
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525148
Supporting Variants
Samples
Known GenesRHBDF2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701218
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