A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976645



Internal ID19247434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:143398728..143527228hg38UCSC Ensembl
Outerchr1:148825700..148954300hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38128501
hg19128601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124591
Supporting Variants
SamplesKWS2
Known GenesLOC101929780, LOC645166
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976645
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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