A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619571



Internal ID15471466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136552351..136724663hg38UCSC Ensembl
Outerchr9:139446803..139619115hg19UCSC Ensembl
Outerchr9:138566624..138738936hg18UCSC Ensembl
Outerchr9:136722640..136894952hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg387440
hg197440
hg187440
hg177440
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509334
Supporting Variants
SamplesNA10860
Known GenesAGPAT2, EGFL7, FAM69B, MIR126, SNHG7
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)nssv619571
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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