A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509195



Internal ID8792135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:44147118..44261782hg38UCSC Ensembl
Outerchr7:44186717..44301381hg19UCSC Ensembl
Outerchr7:44153242..44267906hg18UCSC Ensembl
Outerchr7:43959957..44074621hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg386141
hg196141
hg186141
hg176141
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619481
SamplesNA10860
Known GenesCAMK2B, GCK, YKT6
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)nsv509195
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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