A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618807



Internal ID15471925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:39621185..39747623hg38UCSC Ensembl
Outerchr7:39660784..39787222hg19UCSC Ensembl
Outerchr7:39627309..39753747hg18UCSC Ensembl
Outerchr7:39434024..39560462hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38126439
hg19126439
hg18126439
hg17126439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508451
Supporting Variants
SamplesNA10860
Known GenesLINC00265, RALA
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)nssv618807
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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