A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3985287



Internal ID19220518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:40283373..40283468hg38UCSC Ensembl
Outerchr1:40749045..40749140hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126993
Supporting Variants
SamplesKWS1
Known GenesZMPSTE24
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3985287
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