A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3973523



Internal ID18881047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8301077..8301174hg38UCSC Ensembl
Outerchr4:8302804..8302901hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136815
Supporting Variants
SamplesKWS2
Known GenesHTRA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3973523
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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