A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508894



Internal ID15476392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238076839..238177028hg38UCSC Ensembl
Outerchr2:238985480..239085669hg19UCSC Ensembl
Outerchr2:238650219..238750408hg18UCSC Ensembl
Outerchr2:238767480..238867669hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383733
hg193733
hg183733
hg173733
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619305
SamplesNA10860
Known GenesESPNL, ILKAP, KLHL30, SCLY, UBE2F-SCLY
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)nsv508894
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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