A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619750



Internal ID15471645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:37265150..37315117hg38UCSC Ensembl
Outerchr19:37756052..37806019hg19UCSC Ensembl
Outerchr19:42447892..42497859hg18UCSC Ensembl
Outerchr19:42447892..42497859hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38175305
hg19175305
hg18175305
hg17175305
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509741
Supporting Variants
SamplesNA10860
Known GenesLOC284412
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)nssv619750
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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