A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130328



Internal ID18914799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49377265..49379726hg38UCSC Ensembl
Outerchr13:49951401..49953862hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382462
hg192462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv969n106
Supporting Variantsnssv3965178, nssv3964355
SamplesKWS2, KWS1
Known GenesCAB39L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130328
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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