A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619788



Internal ID15818369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31487776..31527074hg38UCSC Ensembl
Outerchr1:31960623..31992675hg19UCSC Ensembl
Outerchr1:31733210..31765262hg18UCSC Ensembl
Outerchr1:31629716..31661768hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg387336
hg197336
hg187336
hg177336
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509147
Supporting Variants
SamplesNA10860
Known GenesLOC149086, LOC284551
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)nssv619788
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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