A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623608



Internal ID15822181
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
hg387060
hg197060
hg187060
hg177060
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508804
Supporting Variants
SamplesNA18994
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)nssv623608
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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