A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981472



Internal ID18868161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29942093..29942693hg38UCSC Ensembl
Outerchr19:30433000..30433600hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144872
Supporting Variants
SamplesKWS1
Known GenesURI1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981472
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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