A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509750



Internal ID15477248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50443078..50540357hg38UCSC Ensembl
Outerchr19:50946335..51043614hg19UCSC Ensembl
Outerchr19:55638147..55735426hg18UCSC Ensembl
Outerchr19:55638147..55735426hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386399
hg196399
hg186399
hg176399
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619753
SamplesNA10860
Known GenesASPDH, EMC10, FAM71E1, JOSD2, LRRC4B, MYBPC2
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv509750
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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