A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989439



Internal ID19222244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8449526..8449833hg38UCSC Ensembl
Outerchr19:8514410..8514717hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1121189
Supporting Variants
SamplesKWS1
Known GenesHNRNPM
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989439
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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