A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619786



Internal ID15471681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30710610..30759706hg38UCSC Ensembl
Outerchr1:31183457..31232553hg19UCSC Ensembl
Outerchr1:30956044..31005140hg18UCSC Ensembl
Outerchr1:30852550..30901646hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg383051
hg193051
hg183051
hg173051
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509124
Supporting Variants
SamplesNA10860
Known GenesLAPTM5, MATN1, MATN1-AS1, MIR4420
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)nssv619786
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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