A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981838



Internal ID19220218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:139648015..139648915hg38UCSC Ensembl
Outerchr5:139027600..139028500hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119041
Supporting Variants
SamplesKWS1
Known GenesCXXC5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981838
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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