A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509337



Internal ID15476835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137756805..137794033hg38UCSC Ensembl
Outerchr9:140651257..140688485hg19UCSC Ensembl
Outerchr9:139771078..139808306hg18UCSC Ensembl
Outerchr9:137927094..137964322hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg383742
hg193742
hg183742
hg173742
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619573
SamplesNA10860
Known GenesEHMT1, EHMT1-IT1
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)nsv509337
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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