A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134794



Internal ID18928754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43956515..43956570hg38UCSC Ensembl
Outerchr19:44460667..44460722hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972259, nssv3955456
SamplesKWS1, KWS2
Known GenesZNF221
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134794
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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