A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695381



Internal ID15085347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:225035978..225044599hg38UCSC Ensembl
Innerchr2:225900695..225909316hg19UCSC Ensembl
Innerchr2:225608939..225617560hg18UCSC Ensembl
Innerchr2:225726200..225734821hg17UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg388622
hg198622
hg188622
hg178622
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517969
Supporting Variants
Samples
Known GenesDOCK10
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695381
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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