A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990110



Internal ID18899105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:8893190..8893690hg38UCSC Ensembl
Outerchr8:8750700..8751200hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1137608
Supporting Variants
SamplesKWS2
Known GenesMFHAS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990110
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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