A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5878993



Internal ID22653960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154598638..155803675hg38UCSC Ensembl
chrX:153826899..155033338hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg381205038
hg191206440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17446506
Samples
Known GenesBRCC3, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, F8, F8A1, F8A2, F8A3, FAM223A, FAM223B, FUNDC2, GAB3, H2AFB1, H2AFB2, H2AFB3, MIR1184-1, MIR1184-2, MIR1184-3, MIR644B, MPP1, MTCP1, RAB39B, SMIM9, SNORA36A, SNORA56, SPRY3, TMLHE, TMLHE-AS1, VBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5878993
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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