A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137861



Internal ID19259951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:244479217..244479281hg38UCSC Ensembl
Outerchr1:244642519..244642583hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3990381
SamplesKWS2
Known GenesC1orf101
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137861
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