A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508847



Internal ID15476345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:9612137..9678831hg38UCSC Ensembl
Outerchr1:9672195..9738889hg19UCSC Ensembl
Outerchr1:9594782..9661476hg18UCSC Ensembl
Outerchr1:9606461..9673155hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg385929
hg195929
hg185929
hg175929
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623772, nssv619767, nssv621081
SamplesNA15510, NA18994, NA10860
Known GenesC1orf200, PIK3CD, TMEM201
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)nsv508847
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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