A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703975



Internal ID15093941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:11840768..11849457hg38UCSC Ensembl
Innerchr1:11900825..11909514hg19UCSC Ensembl
Innerchr1:11823412..11832101hg18UCSC Ensembl
Innerchr1:11835091..11843780hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg388690
hg198690
hg188690
hg178690
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527521
Supporting Variants
Samples
Known GenesCLCN6, NPPA, NPPA-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703975
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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