A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv674169



Internal ID15064135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21628603..21642781hg38UCSC Ensembl
Innerchr22:21982892..21997070hg19UCSC Ensembl
Innerchr22:20312892..20327070hg18UCSC Ensembl
Innerchr22:20307446..20321624hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3814179
hg1914179
hg1814179
hg1714179
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516806
Supporting Variants
Samples
Known GenesCCDC116, SDF2L1, YDJC
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv674169
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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