A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705243



Internal ID15441895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246545165..246680013hg38UCSC Ensembl
Innerchr1:246708467..246843315hg19UCSC Ensembl
Innerchr1:244775090..244909938hg18UCSC Ensembl
Innerchr1:243034508..243169356hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38134849
hg19134849
hg18134849
hg17134849
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528615
Supporting Variants
Samples
Known GenesCNST, TFB2M
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705243
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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