A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524681



Internal ID8418956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:118890895..121570001hg38UCSC Ensembl
Innerchr1:119433518..121311799hg19UCSC Ensembl
Innerchr1:119235041..121013322hg18UCSC Ensembl
Innerchr1:119145560..120923841hg17UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg382679107
hg191878282
hg181778282
hg171778282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700652
Samples
Known GenesADAM30, EMBP1, FAM72B, FCGR1B, HAO2, HIST2H2BA, HMGCS2, HSD3B1, HSD3B2, HSD3BP4, LINC00622, NBPF7, NOTCH2, PHGDH, REG4, SRGAP2-AS1, SRGAP2D, TBX15, WARS2, ZNF697
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524681
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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