A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123251



Internal ID19247971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35765686..35765742hg38UCSC Ensembl
Outerchr19:36256587..36256643hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991286, nssv3971263
SamplesKWS2, KWS1
Known GenesC19orf55
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123251
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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