A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704148



Internal ID15440800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:58060563..58065955hg38UCSC Ensembl
Innerchr1:58526235..58531627hg19UCSC Ensembl
Innerchr1:58298823..58304215hg18UCSC Ensembl
Innerchr1:58238256..58243648hg17UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg385393
hg195393
hg185393
hg175393
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527673
Supporting Variants
Samples
Known GenesDAB1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704148
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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