A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv685153



Internal ID15075119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247896121..247908724hg38UCSC Ensembl
Innerchr1:248059423..248072026hg19UCSC Ensembl
Innerchr1:246126046..246138649hg18UCSC Ensembl
Innerchr1:244385464..244398067hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3812604
hg1912604
hg1812604
hg1712604
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515858
Supporting Variants
Samples
Known GenesOR2W3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv685153
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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