A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699178



Internal ID15089144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108825322..108827293hg38UCSC Ensembl
Innerchr1:109367944..109369915hg19UCSC Ensembl
Innerchr1:109169467..109171438hg18UCSC Ensembl
Innerchr1:109079986..109081957hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381972
hg191972
hg181972
hg171972
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517381
Supporting Variants
Samples
Known GenesAKNAD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699178
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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