A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142088



Internal ID19272822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42788910..43043537hg38UCSC Ensembl
Outerchr19:43293062..43547689hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38254628
hg19254628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993593
SamplesKWS1
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142088
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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