A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv680744



Internal ID15070710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54790359..54804161hg38UCSC Ensembl
Innerchr19:55301811..55315616hg19UCSC Ensembl
Innerchr19:59993623..60007428hg18UCSC Ensembl
Innerchr19:59993623..60007428hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3813803
hg1913806
hg1813806
hg1713806
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517143
Supporting Variants
Samples
Known GenesKIR2DL4, LOC100287534
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv680744
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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