A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989708



Internal ID18882984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:234608754..234611454hg38UCSC Ensembl
Outerchr1:234744500..234747200hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg382701
hg192701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136104
Supporting Variants
SamplesKWS2
Known GenesIRF2BP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989708
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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