A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508804



Internal ID15824831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:140687757..140733369hg38UCSC Ensembl
OuterchrX:139769922..139815534hg19UCSC Ensembl
OuterchrX:139597588..139643200hg18UCSC Ensembl
OuterchrX:139495442..139541054hg17UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg385215
hg195215
hg185215
hg175215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620960, nssv619606, nssv623608
SamplesNA15510, NA18994, NA10860
Known GenesLINC00632
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)nsv508804
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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