A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701358



Internal ID15438010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51964569..51968311hg38UCSC Ensembl
Innerchr19:52467822..52471564hg19UCSC Ensembl
Innerchr19:57159634..57163376hg18UCSC Ensembl
Innerchr19:57159634..57163376hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg383743
hg193743
hg183743
hg173743
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525259
Supporting Variants
Samples
Known GenesHCCAT3, ZNF350
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701358
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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