A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524007



Internal ID15104614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246935285..246999356hg38UCSC Ensembl
Innerchr1:247098587..247162658hg19UCSC Ensembl
Innerchr1:245165210..245229281hg18UCSC Ensembl
Innerchr1:243424628..243488699hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3864072
hg1964072
hg1864072
hg1764072
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699867
Samples
Known GenesZNF670-ZNF695, ZNF695
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524007
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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