A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv49n100



Internal ID19010417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16544771..16710590hg38UCSC Ensembl
chr1:16871266..17037085hg19UCSC Ensembl
chr1:16743853..16909672hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38165820
hg19165820
hg18165820
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005045, nsv1010269
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv49n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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