A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620002



Internal ID15819359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:150308979..150354152hg38UCSC Ensembl
Outerchr7:150006068..150051241hg19UCSC Ensembl
Outerchr7:149637001..149682174hg18UCSC Ensembl
Outerchr7:149443716..149488889hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3845174
hg1945174
hg1845174
hg1745174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508490
Supporting Variants
SamplesNA15510
Known GenesACTR3C, LRRC61, RARRES2, ZBED6CL
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)nssv620002
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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