A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947448



Internal ID18594296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169247428..169270529hg38UCSC Ensembl
Innerchr1:169216666..169239767hg19UCSC Ensembl
Innerchr1:167483290..167506391hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3823102
hg1923102
hg1823102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2760835, nssv2764710, nssv2763928, nssv2759183
SamplesHGDP00665, HGDP00521, HGDP01307, HGDP00456
Known GenesNME7
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947448
Frequency
Sample Size10
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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