A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010634



Internal ID18753166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16609449..16851458hg38UCSC Ensembl
Innerchr1:16935944..17177953hg19UCSC Ensembl
Innerchr1:16808531..17050540hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38242010
hg19242010
hg18242010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv53n100
Supporting Variantsnssv3698895
Samples
Known GenesCROCCP2, 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)nsv1010634
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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