A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622816



Internal ID15474703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:120196044..120296224hg38UCSC Ensembl
Outerchr2:120953620..121053800hg19UCSC Ensembl
Outerchr2:120670090..120770270hg18UCSC Ensembl
Outerchr2:120669850..120770030hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38100181
hg19100181
hg18100181
hg17100181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508164
Supporting Variants
SamplesNA18994
Known GenesRALB, TMEM185B
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)nssv622816
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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