A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704192



Internal ID15440844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:5563623..5565506hg38UCSC Ensembl
Innerchr1:5623683..5625566hg19UCSC Ensembl
Innerchr1:5546270..5548153hg18UCSC Ensembl
Innerchr1:5557949..5559832hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381884
hg191884
hg181884
hg171884
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527712
Supporting Variants
Samples
Known GenesMIR4417
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704192
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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