A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv55n100



Internal ID19010423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16544771..16949734hg38UCSC Ensembl
chr1:16871266..17276229hg19UCSC Ensembl
chr1:16743853..17148816hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38404964
hg19404964
hg18404964
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006011, nsv1009019, nsv999702, nsv999140, nsv1004542, nsv1014932, nsv1013996, nsv1000023
Samples
Known GenesCROCC, CROCCP2, ESPNP, LOC729574, MIR3675, MST1L, 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)dgv55n100
Frequency
Sample Size29084
Observed Gain42
Observed Loss8
Observed Complex0
Frequencyn/a


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