A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700401



Internal ID15090367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34525235..34539534hg38UCSC Ensembl
Innerchr6:34493012..34507311hg19UCSC Ensembl
Innerchr6:34600990..34615289hg18UCSC Ensembl
Innerchr6:34600990..34615289hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3814300
hg1914300
hg1814300
hg1714300
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516578
Supporting Variants
Samples
Known GenesPACSIN1, SPDEF
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700401
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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