A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703196



Internal ID15093162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:69994203..70010111hg38UCSC Ensembl
Innerchr1:70459886..70475794hg19UCSC Ensembl
Innerchr1:70232474..70248382hg18UCSC Ensembl
Innerchr1:70171907..70187815hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3815909
hg1915909
hg1815909
hg1715909
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526839
Supporting Variants
Samples
Known GenesLRRC7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703196
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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