A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3982708



Internal ID19210496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:244615173..244615240hg38UCSC Ensembl
Outerchr1:244778475..244778542hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119770
Supporting Variants
SamplesKWS1
Known GenesC1orf101
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3982708
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer