A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619302



Internal ID15471197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219507073..219610784hg38UCSC Ensembl
Outerchr2:220371795..220475506hg19UCSC Ensembl
Outerchr2:220080039..220183750hg18UCSC Ensembl
Outerchr2:220197300..220301011hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg385704
hg195704
hg185704
hg175704
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508887
Supporting Variants
SamplesNA10860
Known GenesASIC4, CHPF, INHA, MIR3132, OBSL1, STK11IP, TMEM198
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)nssv619302
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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